A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11710n54



Internal ID19003886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148377131..148379174hg38UCSC Ensembl
chr7:148074223..148076266hg19UCSC Ensembl
chr7:147705156..147707199hg18UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg382044
hg192044
hg182044
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608969, nsv608971
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11710n54
Frequency
Sample Size17421
Observed Gain26
Observed Loss1333
Observed Complex0
Frequencyn/a


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