A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595011



Internal ID6635286
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2114720..2116627hg38UCSC Ensembl
Innerchr3:2114726..2116622hg38UCSC Ensembl
Outerchr3:2114715..2116633hg38UCSC Ensembl
chr3:2156404..2158311hg19UCSC Ensembl
Innerchr3:2156410..2158306hg19UCSC Ensembl
Outerchr3:2156399..2158317hg19UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10899181, essv10899180
SamplesHG00446, NA12058
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595011
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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