A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15663993



Internal ID5000861
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:34645235..34646517hg38UCSC Ensembl
Innerchr17:34645240..34646512hg38UCSC Ensembl
Outerchr17:34645230..34646522hg38UCSC Ensembl
chr17:32972254..32973536hg19UCSC Ensembl
Innerchr17:32972259..32973531hg19UCSC Ensembl
Outerchr17:32972249..32973541hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640427
Supporting Variants
SamplesNA18502
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15663993
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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