A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9879298



Internal ID4056292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:19702531..19713294hg38UCSC Ensembl
Innerchr1:19702531..19713294hg38UCSC Ensembl
Outerchr1:19702031..19713794hg38UCSC Ensembl
chr1:20029024..20039787hg19UCSC Ensembl
Innerchr1:20029024..20039787hg19UCSC Ensembl
Outerchr1:20028524..20040287hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3810764
hg1910764
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585406
Supporting Variants
SamplesHG03695
Known GenesTMCO4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9879298
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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