A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640660



Internal ID6680746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45281625..45282237hg38UCSC Ensembl
Innerchr17:45281640..45282223hg38UCSC Ensembl
Outerchr17:45281611..45282252hg38UCSC Ensembl
chr17:43358992..43359604hg19UCSC Ensembl
Innerchr17:43359007..43359590hg19UCSC Ensembl
Outerchr17:43358978..43359619hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38613
hg19613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680798, essv15680799
SamplesNA19445, HG00844
Known GenesMAP3K14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640660
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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