A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752308



Internal ID12985860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:6523060..6899149hg38UCSC Ensembl
Innerchr9:6523060..6899149hg19UCSC Ensembl
Innerchr9:6513060..6889149hg18UCSC Ensembl
Innerchr9:6513060..6889149hg17UCSC Ensembl
Cytoband9p24.1
Allele length
AssemblyAllele length
hg38376090
hg19376090
hg18376090
hg17376090
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983016, essv6986324, essv6983017, essv6986323, essv6983018
SamplesBEC_533
Known GenesGLDC, KDM4C
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)esv2752308
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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