A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751112



Internal ID12637978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7700916..7927734hg38UCSC Ensembl
Innerchr12:7853512..8080330hg19UCSC Ensembl
Innerchr12:7744779..7971597hg18UCSC Ensembl
Innerchr12:7744779..7971597hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38226819
hg19226819
hg18226819
hg17226819
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv57e55
Supporting Variantsessv6986308, essv6982972
SamplesBEC_53
Known GenesCLEC4C, DPPA3, NANOG, NANOGNB, SLC2A14, SLC2A3
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)esv2751112
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer