A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597455



Internal ID6637725
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:114305165..114307900hg38UCSC Ensembl
Innerchr3:114305215..114307850hg38UCSC Ensembl
Outerchr3:114305111..114307954hg38UCSC Ensembl
chr3:114024012..114026747hg19UCSC Ensembl
Innerchr3:114024062..114026697hg19UCSC Ensembl
Outerchr3:114023958..114026801hg19UCSC Ensembl
Cytoband3q13.31
Allele length
AssemblyAllele length
hg382736
hg192736
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11107408, essv11107409, essv11107410
SamplesNA18566, HG00407, NA18636
Known GenesTIGIT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597455
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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