A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15617695



Internal ID6774055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:13947807..13951471hg38UCSC Ensembl
Innerchr17:13947807..13951471hg38UCSC Ensembl
Outerchr17:13947563..13951757hg38UCSC Ensembl
chr17:13851124..13854788hg19UCSC Ensembl
Innerchr17:13851124..13854788hg19UCSC Ensembl
Outerchr17:13850880..13855074hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383665
hg193665
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640006
Supporting Variants
SamplesNA20876
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15617695
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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