A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596748



Internal ID6984062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81505405..81512390hg38UCSC Ensembl
Innerchr3:81505405..81512390hg38UCSC Ensembl
Outerchr3:81505353..81512501hg38UCSC Ensembl
chr3:81554556..81561541hg19UCSC Ensembl
Innerchr3:81554556..81561541hg19UCSC Ensembl
Outerchr3:81554504..81561652hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg386986
hg196986
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11054372
SamplesNA19393
Known GenesGBE1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596748
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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