A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15767089



Internal ID5734337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82449607..82450555hg38UCSC Ensembl
Innerchr17:82449638..82450525hg38UCSC Ensembl
Outerchr17:82449577..82450586hg38UCSC Ensembl
chr17:80407483..80408431hg19UCSC Ensembl
Innerchr17:80407514..80408401hg19UCSC Ensembl
Outerchr17:80407453..80408462hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38949
hg19949
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3641425
Supporting Variants
SamplesNA19113
Known GenesC17orf62
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15767089
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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