A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986308



Internal ID12627911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7700916..7919412hg38UCSC Ensembl
Innerchr12:7853512..8072008hg19UCSC Ensembl
Innerchr12:7744779..7963275hg18UCSC Ensembl
Innerchr12:7744779..7963275hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38218497
hg19218497
hg18218497
hg17218497
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751112
Supporting Variants
SamplesBEC_53
Known GenesCLEC4C, DPPA3, NANOG, NANOGNB, SLC2A14, SLC2A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986308
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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