A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585265



Internal ID6972790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13668168..13672110hg38UCSC Ensembl
Innerchr1:13668209..13672070hg38UCSC Ensembl
Outerchr1:13668128..13672151hg38UCSC Ensembl
chr1:13994663..13998605hg19UCSC Ensembl
Innerchr1:13994704..13998565hg19UCSC Ensembl
Outerchr1:13994623..13998646hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg383943
hg193943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9860347, essv9860348
SamplesHG01281, HG01075
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585265
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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