A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659652



Internal ID9579071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:47514492..47585778hg38UCSC Ensembl
Outerchr10:47514116..47586148hg38UCSC Ensembl
Innerchr10:48913816..48984722hg19UCSC Ensembl
Outerchr10:48913445..48985092hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3872033
hg1971648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv137e199
Supporting Variantsessv5937019, essv6104179, essv6356232, essv5849152, essv6594196, essv6278363, essv6567308, essv5615317, essv6109769, essv5590637, essv6232685, essv5510524, essv5841841, essv5815826, essv5815268, essv6098793, essv6252681, essv6535159, essv5916417, essv5885693, essv5469343, essv6046680, essv5512482, essv6240454, essv6550710, essv6538143, essv5729401, essv5447425, essv6166895, essv6327264, essv6491823, essv5404468, essv5759193, essv5606101, essv6485373, essv5900029, essv6179695, essv5613945, essv5780781, essv5629145, essv5985081, essv5564249, essv5624808, essv6248775, essv6528204, essv5836691, essv6320993, essv5985979
SamplesHG00361, HG00367, HG00181, HG00179, HG00327, HG00173, HG00346, HG00369, HG00185, HG00281, HG00335, HG00325, HG00309, HG00338, HG00326, HG00178, HG00323, HG00313, HG00268, HG00266, HG00183, HG00176, HG00282, HG00328, HG00190, HG00344, HG00275, HG00324, HG00284, HG00273, HG00331, HG00321, HG00276, HG00336, HG00285, HG00375, HG00319, HG00339, HG00269, HG00329, HG00342, HG00267, HG00174, HG00310, HG00280, HG00274, HG00171, HG00345
Known GenesBMS1P1, BMS1P5, GLUD1P7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659652
Frequency
Sample Size1151
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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