A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9921143



Internal ID6877681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:43072632..43073370hg38UCSC Ensembl
Innerchr1:43072633..43073369hg38UCSC Ensembl
Outerchr1:43072631..43073371hg38UCSC Ensembl
chr1:43538303..43539041hg19UCSC Ensembl
Innerchr1:43538304..43539040hg19UCSC Ensembl
Outerchr1:43538302..43539042hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38739
hg19739
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585861
Supporting Variants
SamplesNA21100
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9921143
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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