A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9876181



Internal ID5258115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17513836..17517807hg38UCSC Ensembl
Innerchr1:17513836..17517807hg38UCSC Ensembl
Outerchr1:17513595..17518062hg38UCSC Ensembl
chr1:17840332..17844303hg19UCSC Ensembl
Innerchr1:17840332..17844303hg19UCSC Ensembl
Outerchr1:17840091..17844558hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg383972
hg193972
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585369
Supporting Variants
SamplesNA18637
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9876181
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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