A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10054709



Internal ID6619507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:109066661..109076793hg38UCSC Ensembl
Innerchr1:109067161..109076293hg38UCSC Ensembl
Outerchr1:109065661..109077793hg38UCSC Ensembl
chr1:109609283..109619415hg19UCSC Ensembl
Innerchr1:109609783..109618915hg19UCSC Ensembl
Outerchr1:109608283..109620415hg19UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3810133
hg1910133
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587147
Supporting Variants
SamplesNA20785
Known GenesTAF13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10054709
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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