A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13633052



Internal ID3634868
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:131651740..131887259hg38UCSC Ensembl
Innerchr9:131651890..131887109hg38UCSC Ensembl
Outerchr9:131651590..131887409hg38UCSC Ensembl
chr9:134527127..134762646hg19UCSC Ensembl
Innerchr9:134527277..134762496hg19UCSC Ensembl
Outerchr9:134526977..134762796hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38235520
hg19235520
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621896
Supporting Variants
SamplesHG01602
Known GenesMED27, RAPGEF1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13633052
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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