A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751894



Internal ID12638760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45141551..45772680hg38UCSC Ensembl
Innerchr2:45368690..45999819hg19UCSC Ensembl
Innerchr2:45222194..45853323hg18UCSC Ensembl
Innerchr2:45280341..45911470hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38631130
hg19631130
hg18631130
hg17631130
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985831, essv6987275, essv6985833, essv6985832, essv6987276
SamplesSPC_63
Known GenesLINC01121, PRKCE, SRBD1
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)esv2751894
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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