A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679161



Internal ID6317086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43001393..43002273hg38UCSC Ensembl
Innerchr17:43001394..43002273hg38UCSC Ensembl
Outerchr17:43001393..43002274hg38UCSC Ensembl
chr17:41153410..41154290hg19UCSC Ensembl
Innerchr17:41153411..41154290hg19UCSC Ensembl
Outerchr17:41153410..41154291hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640618
Supporting Variants
SamplesNA19916
Known GenesRPL27
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679161
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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