A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15674201



Internal ID6545120
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:38989512..38999233hg38UCSC Ensembl
Innerchr17:38990012..38998733hg38UCSC Ensembl
Outerchr17:38988512..39000233hg38UCSC Ensembl
chr17:37145765..37155486hg19UCSC Ensembl
Innerchr17:37146265..37154986hg19UCSC Ensembl
Outerchr17:37144765..37156486hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg389722
hg199722
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640534
Supporting Variants
SamplesNA20589
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15674201
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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