A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677142



Internal ID9596561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:57351785..57353891hg38UCSC Ensembl
Outerchr18:57351414..57354261hg38UCSC Ensembl
Innerchr18:55019016..55021122hg19UCSC Ensembl
Outerchr18:55018645..55021492hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg382848
hg192848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6258868, essv6551262, essv5747336, essv6335200, essv5443007, essv6027593, essv5796421, essv6471846, essv5645913, essv6577890, essv5545489, essv5882272, essv6305391, essv5497017, essv5934620, essv5958917, essv5871877, essv5577476, essv5512155, essv5507079, essv5956508, essv6263486, essv6015497, essv6355603, essv5820392, essv5656237, essv5726120, essv5564302, essv5702832, essv6331115, essv6426269, essv5685288, essv6496069, essv5850898, essv5771369, essv6512438, essv5826166, essv6140578, essv5984328, essv5484725, essv5705398, essv5870634, essv6270289, essv5674503, essv6119826, essv6196732, essv5583446, essv6331719, essv5721300, essv5716686, essv5533334, essv5724240, essv5846206, essv6135627, essv5924146, essv6362758, essv6119611, essv5489345, essv5490409, essv5650167
SamplesHG00189, HG00361, HG00187, HG00315, HG00367, HG00318, HG00181, HG00337, HG00327, HG00272, HG00173, HG00346, HG00369, HG00270, HG00334, HG00185, HG00281, HG00277, HG00335, HG00309, HG00182, HG00338, HG00326, HG00178, HG00323, HG00313, HG00188, HG00268, HG00266, HG00282, HG00328, HG00190, HG00368, HG00320, HG00344, HG00275, HG00324, HG00284, HG00273, HG00373, HG00331, HG00321, HG00276, HG00336, HG00285, HG00353, HG00357, HG00278, HG00319, HG00339, HG00269, HG00312, HG00329, HG00342, HG00310, HG00186, HG00280, HG00343, HG00274, HG00345
Known GenesST8SIA3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677142
Frequency
Sample Size1151
Observed Gain0
Observed Loss60
Observed Complex0
Frequencyn/a


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