A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585138



Internal ID6972662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8105981..8146975hg38UCSC Ensembl
Innerchr1:8106131..8146825hg38UCSC Ensembl
Outerchr1:8105831..8147125hg38UCSC Ensembl
chr1:8166041..8207035hg19UCSC Ensembl
Innerchr1:8166191..8206885hg19UCSC Ensembl
Outerchr1:8165891..8207185hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg3840995
hg1940995
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9847542, essv9847543
SamplesNA20882, NA20900
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585138
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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