A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751831



Internal ID12638697
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:148393789..149249089hg38UCSC Ensembl
Innerchr2:149151358..150105603hg19UCSC Ensembl
Innerchr2:148867828..149813849hg18UCSC Ensembl
Innerchr2:148985090..149931111hg17UCSC Ensembl
Cytoband2q23.1
Allele length
AssemblyAllele length
hg38855301
hg19954246
hg18946022
hg17946022
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982893, essv6982894, essv6986303, essv6982895, essv6988600
SamplesBEC_608
Known GenesEPC2, KIF5C, LYPD6B, MBD5
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)esv2751831
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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