A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640620



Internal ID7027395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43069915..43075588hg38UCSC Ensembl
Innerchr17:43069965..43075538hg38UCSC Ensembl
Outerchr17:43069865..43075638hg38UCSC Ensembl
chr17:41221932..41227605hg19UCSC Ensembl
Innerchr17:41221982..41227555hg19UCSC Ensembl
Outerchr17:41221882..41227655hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg385674
hg195674
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15679175
SamplesNA18949
Known GenesBRCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640620
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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