A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751101



Internal ID12637967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:47547075..47733102hg38UCSC Ensembl
Innerchr12:47940858..48126885hg19UCSC Ensembl
Innerchr12:46227125..46413152hg18UCSC Ensembl
Innerchr12:46227125..46413152hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg38186028
hg19186028
hg18186028
hg17186028
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984743, essv6984744, essv6984742, essv6987668, essv6987667
SamplesSPC_173
Known GenesENDOU, RPAP3
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)esv2751101
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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