A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674350



Internal ID4039805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39592717..39594524hg38UCSC Ensembl
Innerchr17:39592747..39594494hg38UCSC Ensembl
Outerchr17:39592687..39594554hg38UCSC Ensembl
chr17:37748970..37750777hg19UCSC Ensembl
Innerchr17:37749000..37750747hg19UCSC Ensembl
Outerchr17:37748940..37750807hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg381808
hg191808
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640546
Supporting Variants
SamplesHG03687
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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