A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668000



Internal ID9587419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1121704..1122522hg38UCSC Ensembl
chr12:1230870..1231688hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38819
hg19819
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6026401, essv5947322, essv5916001, essv6292236, essv5944160, essv5606284, essv5623350, essv6212263, essv5410994, essv6172739, essv5611125, essv6456778, essv6101270, essv6063270, essv5481285, essv5401315, essv6484307, essv5973447, essv6002064, essv5836558, essv5880633, essv6268697, essv6300352, essv6138667, essv5971510, essv6242723, essv6514965, essv5466166, essv6336924, essv6285765, essv5419935, essv5848860, essv6027070, essv6005918, essv6489677, essv5883042, essv5671107, essv5478161, essv6412947, essv5680952, essv6524083, essv5417970, essv6288220, essv5976281, essv6225041, essv5876235, essv6273977, essv5929380, essv6129649, essv5523435, essv5411478, essv5767706, essv6166702, essv5482517, essv6475378, essv6037445, essv5888187, essv6430462, essv6404568, essv6498837, essv6185376, essv5708206, essv6053534, essv6411327, essv6069819, essv5684057, essv5634269, essv5538682, essv6507058, essv5461930, essv5796939, essv5712869, essv6452357, essv5662769, essv5652189, essv5745243, essv5900572, essv5493414, essv5582742, essv5501532, essv5801747, essv6065610, essv6502149, essv5718443, essv5981120, essv5584953, essv5927790, essv5555162, essv6573419, essv5738326, essv5440719, essv6035877, essv6382588, essv5522031, essv5768358, essv6438540, essv5542520, essv6571403, essv6126708, essv6466874, essv5638992, essv5996867, essv5644341, essv5740729, essv6231823, essv5851715, essv6038269, essv5412844, essv6316431, essv5795225, essv5728100, essv5512605, essv6382763, essv6107001, essv6430469, essv6070642, essv6516962, essv6554387, essv6240922, essv6381072, essv5909685, essv6311818, essv5399712, essv6414039, essv5749173, essv5923262, essv6037939, essv6219694, essv5784827, essv5538845, essv5630460, essv6295375, essv5716998, essv5506205, essv5722400, essv5691867, essv5473720, essv6278242, essv6576342, essv6182733, essv6151323, essv6263942, essv5872673, essv5615497, essv5519977
SamplesNA20588, NA18502, HG00542, NA20529, NA19703, HG00536, HG00142, NA11995, NA18861, NA18508, HG01359, NA19704, HG01389, NA20816, HG00318, HG00244, NA19359, NA12751, NA18504, NA20507, HG01461, HG01051, HG00261, NA18510, NA12750, NA12399, HG01140, HG00337, HG00327, HG00138, NA19660, HG01350, NA18519, NA18597, NA18489, NA19448, NA20586, HG01492, HG00736, NA18574, NA07048, NA07347, HG00346, HG00270, HG00243, NA20541, NA12761, NA11930, NA12282, HG00277, NA19720, HG01080, HG00335, HG00148, NA06984, HG00236, NA20812, NA18868, NA19917, NA19372, NA19235, NA19189, HG00338, NA18557, HG01048, HG00326, NA20533, HG00323, NA18867, NA18539, NA19921, NA18638, NA20753, NA11993, HG00543, HG00137, NA19908, HG00731, NA20800, HG00268, HG00557, HG00245, NA20760, HG00475, NA19236, NA18516, HG00263, NA18548, NA18907, HG01047, NA20525, HG00273, NA19449, NA11893, NA18499, NA12249, HG01101, NA18853, NA12827, HG01334, NA19338, NA19469, NA19318, NA18593, HG01107, NA19436, NA19685, HG01148, NA20799, HG00254, NA19834, HG00136, NA20520, NA20785, NA20530, HG00237, NA19679, NA20516, NA20281, NA19360, NA07037, HG00256, HG00662, NA19078, HG00478, HG00312, HG00259, NA19474, NA19093, NA20786, HG00343, HG00377, HG00252, NA19661, NA20502, NA18989, NA11892, HG01082, NA20585, NA18522, NA18549, NA19429, NA18562, NA20772, NA18620
Known GenesERC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668000
Frequency
Sample Size1151
Observed Gain0
Observed Loss145
Observed Complex0
Frequencyn/a


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