A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15701743



Internal ID5560805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54235415..54236085hg38UCSC Ensembl
Innerchr17:54235444..54236056hg38UCSC Ensembl
Outerchr17:54235386..54236114hg38UCSC Ensembl
chr17:52312776..52313446hg19UCSC Ensembl
Innerchr17:52312805..52313417hg19UCSC Ensembl
Outerchr17:52312747..52313475hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38671
hg19671
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640816
Supporting Variants
SamplesNA19010
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15701743
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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