A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13378972



Internal ID1037287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:2191823..2197829hg38UCSC Ensembl
Innerchr9:2191823..2197829hg38UCSC Ensembl
Outerchr9:2191584..2198062hg38UCSC Ensembl
chr9:2191823..2197829hg19UCSC Ensembl
Innerchr9:2191823..2197829hg19UCSC Ensembl
Outerchr9:2191584..2198062hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg386007
hg196007
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619286
Supporting Variants
SamplesHG00656
Known GenesSMARCA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13378972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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