A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674981



Internal ID9594400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:57456743..57461649hg38UCSC Ensembl
Outerchr11:57456372..57462019hg38UCSC Ensembl
Innerchr11:57224216..57229122hg19UCSC Ensembl
Outerchr11:57223845..57229492hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5934764, essv6260770, essv5732199, essv5746869, essv6334934, essv6393953, essv5757385, essv5478798, essv6241528, essv5600179, essv5512267, essv5994336, essv5988172, essv5628942, essv5451264, essv5865644, essv6073713, essv5515471, essv6524981, essv6262469, essv6594865, essv6324901, essv5684151, essv6034229, essv6041602, essv5986183, essv6491613, essv6382414, essv5469050, essv6188487, essv6034174, essv5438318, essv5968874, essv6424496, essv6433850, essv5847612, essv5635805, essv6060229, essv6358576, essv6340194, essv6543565, essv6209401, essv5972112, essv6233028, essv5505885, essv5747991, essv6551676, essv6483380, essv5998877, essv6241826
SamplesHG00626, HG00403, HG00650, HG00536, HG00608, HG00449, HG00689, HG00448, HG00634, HG00610, HG00537, HG00512, HG00683, HG00534, HG00422, HG00427, HG00530, HG00419, HG00543, HG00629, HG00443, HG00596, HG00557, HG00428, HG00701, HG00475, HG00584, HG00533, HG00619, HG00708, HG00635, HG00690, HG00404, HG00531, HG00684, HG00613, HG00525, HG00611, HG00476, HG00625, HG00580, HG00473, HG00418, HG00707, HG00672, HG00614, HG00513, HG00478, HG00472, HG00628
Known GenesRTN4RL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674981
Frequency
Sample Size1151
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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