A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984695



Internal ID12983361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32177248..32359347hg38UCSC Ensembl
Innerchr7:32216860..32398959hg19UCSC Ensembl
Innerchr7:32183385..32365484hg18UCSC Ensembl
Innerchr7:31990100..32172199hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38182100
hg19182100
hg18182100
hg17182100
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)essv6984695
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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