A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983645



Internal ID12629957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31128312..31331947hg38UCSC Ensembl
Innerchr12:31281246..31484881hg19UCSC Ensembl
Innerchr12:31172513..31376148hg18UCSC Ensembl
Innerchr12:31172513..31376148hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38203636
hg19203636
hg18203636
hg17203636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751053
Supporting Variants
SamplesBEC_676
Known GenesFAM60A, FLJ13224
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983645
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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