A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640638



Internal ID7027413
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680587, essv15680581, essv15680582, essv15680584, essv15680585, essv15680583, essv15680586, essv15680588
SamplesNA19222, HG03193, NA18864, NA19452, HG01956, HG01551, HG03432, NA18873
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640638
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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