A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598510



Internal ID6638775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:165729982..165943642hg38UCSC Ensembl
Innerchr3:165730019..165943605hg38UCSC Ensembl
Outerchr3:165729945..165943679hg38UCSC Ensembl
chr3:165447770..165661430hg19UCSC Ensembl
Innerchr3:165447807..165661393hg19UCSC Ensembl
Outerchr3:165447733..165661467hg19UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg38213661
hg19213661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11214387
SamplesHG00258
Known GenesBCHE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598510
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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