A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752305



Internal ID12985857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:32020352..32138502hg38UCSC Ensembl
Innerchr9:32020350..32138500hg19UCSC Ensembl
Innerchr9:32010350..32128500hg18UCSC Ensembl
Innerchr9:32010350..32128500hg17UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38118151
hg19118151
hg18118151
hg17118151
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981060, essv6985462, essv6981059
SamplesBEC_345
Known Genes
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)esv2752305
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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