A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984742



Internal ID12636755
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 StatusS
Merged Variantsesv2751101
Supporting Variants
SamplesSPC_173
Known GenesENDOU, RPAP3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984742
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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