A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34446



Internal ID12643799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69485135..69519460hg38UCSC Ensembl
Innerchr9:72100051..72134376hg19UCSC Ensembl
Innerchr9:71289871..71324196hg18UCSC Ensembl
Innerchr9:69329605..69363930hg17UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg3834326
hg1934326
hg1834326
hg1734326
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980108, essv6980107
SamplesNA18953
Known GenesAPBA1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34446
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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