A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595373



Internal ID6982691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14688279..14689772hg38UCSC Ensembl
Innerchr3:14688279..14689772hg38UCSC Ensembl
Outerchr3:14687980..14690038hg38UCSC Ensembl
chr3:14729786..14731279hg19UCSC Ensembl
Innerchr3:14729786..14731279hg19UCSC Ensembl
Outerchr3:14729487..14731545hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg381494
hg191494
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10932609, essv10932608, essv10932603, essv10932607, essv10932605, essv10932606, essv10932604
SamplesHG02634, NA19172, NA19347, NA19152, HG02322, HG03077, HG02465
Known GenesC3orf20
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595373
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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