A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984696



Internal ID12983360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32179548..32383787hg38UCSC Ensembl
Innerchr7:32219160..32423399hg19UCSC Ensembl
Innerchr7:32185685..32389924hg18UCSC Ensembl
Innerchr7:31992400..32196639hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38204240
hg19204240
hg18204240
hg17204240
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752156
Supporting Variants
SamplesSPC_166
Known GenesPDE1C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984696
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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