A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585453



Internal ID6972976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:21786555..21794868hg38UCSC Ensembl
Innerchr1:21786600..21794823hg38UCSC Ensembl
Outerchr1:21786510..21794913hg38UCSC Ensembl
chr1:22113048..22121361hg19UCSC Ensembl
Innerchr1:22113093..22121316hg19UCSC Ensembl
Outerchr1:22113003..22121406hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg388314
hg198314
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9888872, essv9888873
SamplesNA19625, NA19439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585453
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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