A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620241



Internal ID7007113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:30396967..30426942hg38UCSC Ensembl
Innerchr9:30396967..30426942hg38UCSC Ensembl
Outerchr9:30396467..30427442hg38UCSC Ensembl
chr9:30396965..30426940hg19UCSC Ensembl
Innerchr9:30396965..30426940hg19UCSC Ensembl
Outerchr9:30396465..30427440hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg3829976
hg1929976
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13443490
SamplesHG01802
Known GenesLOC401497
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620241
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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