A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11706n54



Internal ID19003882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147314455..147315633hg38UCSC Ensembl
chr7:147011547..147012725hg19UCSC Ensembl
chr7:146642480..146643658hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381179
hg191179
hg181179
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608952, nsv608949, nsv608948, nsv608950
Samples
Known GenesCNTNAP2, MIR548I4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11706n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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