A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11214387



Internal ID1216203
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598510
Supporting Variants
SamplesHG00258
Known GenesBCHE
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11214387
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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