A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2669491



Internal ID9588910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111532072..111532183hg38UCSC Ensembl
chr1:112074694..112074805hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6086820, essv5773583, essv6540637, essv6107327, essv5574499, essv5533423, essv6241935, essv5745410, essv5473946, essv5502812, essv5587611, essv5418417, essv6106254, essv5712294, essv6130124, essv5842565, essv6588725, essv6007497, essv6393302, essv6572307, essv6071221, essv5781860, essv5884024, essv5796297, essv5520206, essv5625915, essv6316551, essv6121909, essv5581183, essv5615665, essv6464998, essv5629304, essv5413733, essv6299730, essv5532092, essv5616601, essv6458914, essv5760579, essv6219424, essv5833104, essv6514903, essv6500411, essv6016316, essv5643374, essv6531879, essv6144275, essv5545690, essv5904162, essv6267798, essv6057303, essv6318484, essv5992706, essv5710227, essv5755623, essv6493648, essv5989401, essv5709675, essv6392938, essv6423881, essv5738790, essv5957316, essv5692259, essv6228771, essv5767218, essv5731692, essv5909183, essv5688936, essv5654670, essv6090200, essv5584232, essv5726444, essv5676640, essv6157271, essv6043180, essv6333107, essv6553573, essv5828704, essv6167158, essv6398092, essv6590598, essv6322582, essv6250710, essv5758266, essv6211721, essv5964028, essv6379460, essv6002268, essv5736269, essv6580660, essv5512803, essv6455891, essv5995633, essv5977026, essv5527182, essv5405364, essv6381779, essv5850963, essv6597477, essv6430609, essv6398237, essv6328841, essv5569904, essv5526273, essv6027602, essv6321369, essv6471385, essv6362671, essv6374413, essv6231854, essv5571492, essv6233235, essv5967302, essv5700601, essv5575531, essv5996916, essv5754183, essv6324314, essv6261444, essv5930892, essv5690074, essv5440006, essv5889727, essv6215996, essv5690405, essv6354446, essv5723580, essv6346249, essv6146512, essv6587596, essv6461099, essv6283603, essv6386034, essv5617522, essv6549950, essv5735658, essv6440126, essv5808722, essv6226336, essv5805867, essv6013522, essv5464118, essv6538795, essv5800776, essv5935889, essv6546009, essv6539234, essv6197718, essv6236122, essv5740298, essv6436260, essv6015858, essv5583146, essv5432468, essv5484517, essv6082715, essv6333106, essv6140210, essv5977642, essv6516047, essv6198295, essv6441191, essv5881388, essv5659348, essv6005604, essv5515173, essv6352913, essv5916226, essv5479553, essv5572469, essv6361382, essv5427191, essv6462355, essv6392051, essv6475438, essv6486790, essv6187325, essv5479086, essv5807386, essv6517855, essv6201106, essv5632516, essv6170649, essv5692724, essv6190404, essv6280394, essv6235071, essv5749072, essv5536120, essv6468261, essv6387196, essv6054596, essv5923506, essv5862133, essv6587230, essv6406840, essv6075000, essv5697394, essv6584899, essv6185460, essv5815623, essv6100110, essv5496765
SamplesHG01441, HG00380, HG00309, NA12154, HG00313, HG00318, HG01440, NA20787, NA11930, NA18951, NA20527, HG00619, HG01250, NA18530, HG00418, NA19081, HG00328, HG01055, NA20516, HG00274, NA20796, NA18526, HG00736, HG00310, HG00261, NA18511, HG01079, NA18948, NA20759, HG00463, HG00614, NA19788, HG01082, NA18953, NA20529, HG00475, NA19010, HG00375, NA19449, HG00326, NA18573, NA18608, HG00148, NA20778, NA20786, NA18542, NA19782, NA18546, NA20539, HG00683, HG00698, HG00404, NA07051, NA19648, NA19651, HG00335, HG00557, HG00578, NA11893, HG00253, NA19780, NA18505, NA18873, NA18943, NA18950, NA19761, HG01171, NA19776, NA18868, NA19654, HG00247, HG00256, NA20770, HG00635, HG00543, NA18559, NA19062, HG00339, NA20505, NA18912, NA18624, NA18508, NA19054, HG00421, NA12004, NA11994, NA19675, NA18622, NA18960, NA18563, NA18623, HG01048, HG00231, HG00692, HG01183, NA20801, HG01047, HG01124, NA19083, NA18956, NA18959, HG00419, HG00125, HG00258, NA12829, NA18637, NA20520, NA18916, NA18593, HG00254, NA19056, NA19663, HG00276, HG00357, HG00584, HG00662, NA18539, NA19728, HG00436, NA19725, HG00620, HG00108, NA12716, HG00653, NA18572, NA20536, NA20126, NA12778, HG00325, HG00629, NA19716, HG00263, NA19005, HG00260, NA19713, HG00232, HG01356, NA20814, HG00249, NA18961, HG01080, NA18613, NA18988, HG00153, HG00329, HG01070, NA12283, HG01060, NA18579, NA20813, NA18606, NA19777, NA18543, NA18940, NA12891, NA18999, NA20525, NA19921, NA18552, NA20756, NA18983, NA19723, NA19078, HG01334, NA12749, NA20799, NA12889, NA19719, HG00448, NA18577, HG01390, NA12878, NA11992, NA20810, HG00285, NA11993, NA19717, NA12842, NA19655, HG01366, NA18499, NA20543, HG01251, NA20792, HG01177, HG00320, HG00324, NA20528, NA18532, NA18574, HG00183, NA19350, NA20524, HG01377, NA18615, NA19758, HG00702, NA18555, NA19385, HG00278, HG01067, NA18553
Known GenesADORA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2669491
Frequency
Sample Size1151
Observed Gain0
Observed Loss202
Observed Complex0
Frequencyn/a


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