A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15582626



Internal ID5584442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:1856649..1858583hg38UCSC Ensembl
Innerchr17:1856693..1858540hg38UCSC Ensembl
Outerchr17:1856606..1858627hg38UCSC Ensembl
chr17:1759943..1761877hg19UCSC Ensembl
Innerchr17:1759987..1761834hg19UCSC Ensembl
Outerchr17:1759900..1761921hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg381935
hg191935
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639700
Supporting Variants
SamplesNA19681
Known GenesRPA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15582626
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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