A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587147



Internal ID6627454
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10054709
SamplesNA20785
Known GenesTAF13
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587147
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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