A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752156



Internal ID12985708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32177248..32383787hg38UCSC Ensembl
Innerchr7:32216860..32423399hg19UCSC Ensembl
Innerchr7:32183385..32389924hg18UCSC Ensembl
Innerchr7:31990100..32196639hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38206540
hg19206540
hg18206540
hg17206540
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6988837, essv6984696, essv6984697, essv6987652, essv6984695
SamplesSPC_166
Known GenesPDE1C
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752156
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer