A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15588610



Internal ID3219991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3562752..3573090hg38UCSC Ensembl
chr17:3466046..3476384hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3810339
hg1910339
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639748
Supporting Variants
SamplesHG02820
Known GenesTRPV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15588610
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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