A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15679107



Internal ID2959280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:42887870..42897271hg38UCSC Ensembl
Innerchr17:42888020..42897121hg38UCSC Ensembl
Outerchr17:42887720..42897421hg38UCSC Ensembl
chr17:41039887..41049288hg19UCSC Ensembl
Innerchr17:41040037..41049138hg19UCSC Ensembl
Outerchr17:41039737..41049438hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg389402
hg199402
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640614
Supporting Variants
SamplesHG02613
Known GenesLINC00671
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15679107
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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