A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597478



Internal ID6637748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:115635735..115637801hg38UCSC Ensembl
Innerchr3:115635735..115637801hg38UCSC Ensembl
Outerchr3:115635641..115637910hg38UCSC Ensembl
chr3:115354582..115356648hg19UCSC Ensembl
Innerchr3:115354582..115356648hg19UCSC Ensembl
Outerchr3:115354488..115356757hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg382067
hg192067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11110336
SamplesNA19372
Known GenesGAP43
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597478
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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