A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988837



Internal ID12983348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32177281..32359362hg38UCSC Ensembl
Innerchr7:32216893..32398974hg19UCSC Ensembl
Innerchr7:32183418..32365499hg18UCSC Ensembl
Innerchr7:31990133..32172214hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38182082
hg19182082
hg18182082
hg17182082
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988837
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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