A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15701760



Internal ID4293587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:54679541..54688986hg38UCSC Ensembl
Innerchr17:54679691..54688836hg38UCSC Ensembl
Outerchr17:54679391..54689136hg38UCSC Ensembl
chr17:52756902..52766347hg19UCSC Ensembl
Innerchr17:52757052..52766197hg19UCSC Ensembl
Outerchr17:52756752..52766497hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg389446
hg199446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640825
Supporting Variants
SamplesHG03854
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15701760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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