A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595047



Internal ID6635322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:3009752..3025488hg38UCSC Ensembl
Innerchr3:3010252..3024988hg38UCSC Ensembl
Outerchr3:3008752..3026488hg38UCSC Ensembl
chr3:3051436..3067172hg19UCSC Ensembl
Innerchr3:3051936..3066672hg19UCSC Ensembl
Outerchr3:3050436..3068172hg19UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg3815737
hg1915737
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv862e214
Supporting Variantsessv10901962, essv10901963
SamplesHG01412, HG01072
Known GenesCNTN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595047
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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