A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3640637



Internal ID7027412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43782953..43795291hg38UCSC Ensembl
chr17:41860321..41872659hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3812339
hg1912339
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15680580, essv15680579
SamplesNA12489, HG00128
Known GenesC17orf105
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3640637
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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