A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11612n54



Internal ID20145036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128818595..128928906hg38UCSC Ensembl
chr7:128458649..128568960hg19UCSC Ensembl
chr7:128245885..128356196hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38110312
hg19110312
hg18110312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608405, nsv608404
SamplesNINDS_111
Known GenesATP6V1F, CCDC136, FLNC, KCP, LOC100130705
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11612n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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