A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680587



Internal ID5847411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43835457..43836605hg38UCSC Ensembl
Innerchr17:43835457..43836605hg38UCSC Ensembl
Outerchr17:43835182..43836843hg38UCSC Ensembl
chr17:41912825..41913973hg19UCSC Ensembl
Innerchr17:41912825..41913973hg19UCSC Ensembl
Outerchr17:41912550..41914211hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381149
hg191149
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640638
Supporting Variants
SamplesNA19222
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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