A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15588603



Internal ID875876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3561030..3568136hg38UCSC Ensembl
Innerchr17:3561095..3568071hg38UCSC Ensembl
Outerchr17:3560965..3568201hg38UCSC Ensembl
chr17:3464324..3471430hg19UCSC Ensembl
Innerchr17:3464389..3471365hg19UCSC Ensembl
Outerchr17:3464259..3471495hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg387107
hg197107
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639746
Supporting Variants
SamplesHG00464
Known GenesTRPV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15588603
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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