A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640546



Internal ID7027321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39592717..39594524hg38UCSC Ensembl
Innerchr17:39592747..39594494hg38UCSC Ensembl
Outerchr17:39592687..39594554hg38UCSC Ensembl
chr17:37748970..37750777hg19UCSC Ensembl
Innerchr17:37749000..37750747hg19UCSC Ensembl
Outerchr17:37748940..37750807hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15674348, essv15674352, essv15674347, essv15674355, essv15674346, essv15674353, essv15674350, essv15674351, essv15674349, essv15674356, essv15674354, essv15674345
SamplesHG03687, NA20274, HG01586, HG03015, HG00109, HG00122, NA12283, HG03629, HG03866, NA19786, HG04161, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640546
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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