A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640586



Internal ID6680673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:41382671..41395315hg38UCSC Ensembl
Innerchr17:41382671..41395315hg38UCSC Ensembl
Outerchr17:41382171..41395815hg38UCSC Ensembl
chr17:39538923..39551567hg19UCSC Ensembl
Innerchr17:39538923..39551567hg19UCSC Ensembl
Outerchr17:39538423..39552067hg19UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg3812645
hg1912645
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15678928, essv15678929, essv15678927
SamplesHG03163, NA18870, HG03202
Known GenesKRT31
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640586
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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