A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15601042



Internal ID5256931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:5717767..5720939hg38UCSC Ensembl
Innerchr17:5717767..5720939hg38UCSC Ensembl
Outerchr17:5717267..5721439hg38UCSC Ensembl
chr17:5621087..5624259hg19UCSC Ensembl
Innerchr17:5621087..5624259hg19UCSC Ensembl
Outerchr17:5620587..5624759hg19UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg383173
hg193173
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3639820
Supporting Variants
SamplesNA18636
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15601042
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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