A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752299



Internal ID12985851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:30398369..30565388hg38UCSC Ensembl
Innerchr9:30398367..30565386hg19UCSC Ensembl
Innerchr9:30388367..30555386hg18UCSC Ensembl
Innerchr9:30388367..30555386hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38167020
hg19167020
hg18167020
hg17167020
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983331, essv6989772, essv6983332
SamplesBEC_639
Known GenesLOC401497
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752299
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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