A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15680576



Internal ID503497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:43770581..43771941hg38UCSC Ensembl
Innerchr17:43770631..43771891hg38UCSC Ensembl
Outerchr17:43770446..43772076hg38UCSC Ensembl
chr17:41847949..41849309hg19UCSC Ensembl
Innerchr17:41847999..41849259hg19UCSC Ensembl
Outerchr17:41847814..41849444hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381361
hg191361
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640636
Supporting Variants
SamplesHG00179
Known GenesDUSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15680576
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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