A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663725



Internal ID9929830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:14755492..14761298hg38UCSC Ensembl
Outerchr4:14755021..14761868hg38UCSC Ensembl
Innerchr4:14757116..14762922hg19UCSC Ensembl
Outerchr4:14756645..14763492hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg386848
hg196848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6392996, essv6258998, essv6568546, essv5745176, essv6048800, essv5755012, essv6438651, essv6297189, essv6580066, essv6193715, essv5411506, essv6524697, essv5569929, essv6446458, essv6264394, essv5949551, essv6456625, essv6500735, essv5992366, essv6339195, essv6318783, essv6215898, essv6312176, essv6341023, essv5589117, essv6585216, essv5517830, essv5600087, essv6496087, essv6470138, essv5867612, essv6470436, essv5737952, essv5681865, essv6410251, essv5529550, essv5719695, essv6076390, essv6501234, essv6183060, essv5806569, essv6118059, essv6303028, essv6201146, essv6401102, essv6513513, essv6508326, essv6333779, essv5840206, essv6398867, essv5397265, essv6520186, essv6428181, essv6166854, essv5814304, essv6246000, essv6231616, essv5572378, essv6567916, essv5482689, essv5904899, essv6117738, essv5918352, essv6048161, essv6115057, essv5500612, essv6146976, essv5511990, essv5440778, essv6532478, essv5714324, essv6245586, essv5824151, essv5560064, essv6359940, essv6318496, essv6222378, essv5630990, essv6187952, essv5481389, essv6372143, essv5550533, essv6077222, essv6123404, essv5450045, essv6188299, essv5696828, essv6214975, essv5921953, essv6277960, essv6364358, essv5595303, essv5822234, essv5996223, essv5526927, essv5803601, essv5421019, essv6458327, essv5968226, essv6213223, essv5444684, essv6184256, essv6102015, essv5791664, essv6457736, essv6090913, essv5634487, essv5609464, essv5635098, essv6462645, essv6149948, essv5547578, essv6550362, essv6424549, essv5737633, essv6546824, essv5759913, essv5720411, essv6049454, essv6019893, essv5745974, essv5600876, essv5553030, essv6303860, essv6303677, essv5861736, essv5549690, essv6298671, essv6226413, essv5706920, essv5497072, essv5869523, essv6494938, essv5443438, essv6099911, essv6409187, essv6099836, essv5710692, essv6433734, essv6020441, essv6330272, essv5696972, essv6029690, essv5878441, essv6530993, essv6477942, essv6197332, essv6258424, essv5867523, essv5979938, essv6417702, essv5825766, essv6509796, essv6386477, essv6146529, essv6548246, essv6496165, essv6353064, essv5693509, essv6280021, essv5515628, essv6002508, essv5934415, essv6207827, essv5988028, essv5571690, essv5900156, essv5808115, essv5728814, essv5560849, essv5889719, essv6567656, essv5990027, essv6163527, essv6539188, essv5527693, essv5466545, essv5404248, essv5988867, essv5901799, essv5554952, essv6273337, essv6025249, essv6321060, essv6204535, essv5887943, essv5494020, essv6559909, essv5543666
SamplesNA20588, HG00650, HG00542, HG00442, HG00592, NA20529, NA20543, HG00536, HG00608, HG00249, HG00671, HG00524, NA20514, NA20531, HG00257, HG00315, NA20752, HG00318, HG00699, HG00179, HG00449, NA20507, HG00654, HG00261, HG00693, HG00337, HG00327, HG00271, HG00663, HG00138, HG00589, HG00251, HG00501, HG00702, HG00689, HG00448, NA20756, HG00330, HG00634, HG00610, HG00346, NA20540, HG00334, HG00537, HG00590, HG00158, NA20541, HG00512, HG00281, HG00139, NA20539, HG00277, HG00335, HG00148, HG00236, HG00325, HG00262, HG00232, HG00534, HG00422, HG00705, HG00309, HG00427, HG00338, HG00159, HG00326, HG00323, HG00530, HG00419, HG00253, NA20515, NA20755, NA20753, HG00464, HG00108, HG00260, HG00543, HG00313, HG00137, HG00133, HG00154, NA20535, HG00629, HG00443, HG00268, HG00282, HG00596, NA20524, HG00557, HG00328, HG00428, HG00653, HG00577, HG00701, HG00657, HG00475, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, HG00500, HG00263, HG00275, NA20506, NA20519, HG00619, HG00708, HG00692, HG00635, NA20525, HG00324, HG00284, HG00273, HG00651, HG00250, HG00531, HG00479, HG00331, HG00684, HG00613, HG00525, HG00321, HG00140, HG01334, HG00276, HG00704, HG00463, HG00246, NA20542, HG00476, NA20522, HG00155, HG00254, HG00119, HG00336, HG00285, HG00353, HG00580, HG00136, HG00278, NA20520, NA20530, NA20527, HG00473, HG00607, HG00237, NA20504, NA20544, HG00319, NA20516, HG00256, HG00662, HG00418, HG00620, HG00339, HG00125, HG00707, HG00672, HG00614, HG00513, HG00478, HG00259, NA20582, HG00421, HG00329, HG00656, HG00342, HG00123, NA20510, HG00310, HG00112, HG00698, HG00280, HG00131, HG00343, NA20528, HG00274, HG00252, NA20503, NA20502, HG00472, HG00345, NA20585, NA20754, HG00437, HG00581
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663725
Frequency
Sample Size1151
Observed Gain0
Observed Loss189
Observed Complex0
Frequencyn/a


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