A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983922



Internal ID12630704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31257350hg38UCSC Ensembl
Innerchr12:31278031..31410284hg19UCSC Ensembl
Innerchr12:31169298..31301551hg18UCSC Ensembl
Innerchr12:31169298..31301551hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38132254
hg19132254
hg18132254
hg17132254
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751060
Supporting Variants
SamplesBEC_734
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983922
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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