A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610398



Internal ID6997315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112593981..112609574hg38UCSC Ensembl
Innerchr6:112594006..112609550hg38UCSC Ensembl
Outerchr6:112593957..112609599hg38UCSC Ensembl
chr6:112915183..112930776hg19UCSC Ensembl
Innerchr6:112915208..112930752hg19UCSC Ensembl
Outerchr6:112915159..112930801hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3815594
hg1915594
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12505746, essv12505751, essv12505741, essv12505740, essv12505749, essv12505744, essv12505747, essv12505745, essv12505752, essv12505750, essv12505748, essv12505742, essv12505743
SamplesHG02658, HG03836, NA20850, HG02786, HG02597, HG04047, HG04039, NA21118, HG03643, HG03708, HG04003, HG03925, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610398
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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