A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978885



Internal ID12632598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123634608..123711309hg38UCSC Ensembl
Innerchr12:124119155..124195856hg19UCSC Ensembl
Innerchr12:122685108..122761809hg18UCSC Ensembl
Innerchr12:122644035..122720736hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3876702
hg1976702
hg1876702
hg1776702
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35148
Supporting Variants
SamplesNA12753
Known GenesGTF2H3, TCTN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978885
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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