A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657220



Internal ID9923325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:8741162..8746554hg38UCSC Ensembl
chr12:8893758..8899150hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385393
hg195393
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv261e199
Supporting Variantsessv6127461, essv6402200, essv5726814, essv5872406, essv6260577, essv5691576, essv6242884, essv5430597, essv5933349, essv6578976, essv5876462, essv5888497, essv6059946
SamplesNA19700, NA19397, NA18924, NA19399, NA19350, NA19396, HG01083, NA19375, NA19376, NA20348, NA19713, NA19093, NA19463
Known GenesRIMKLB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657220
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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