A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11611n54



Internal ID20145035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:128794846..128881377hg38UCSC Ensembl
chr7:128434900..128521431hg19UCSC Ensembl
chr7:128222136..128308667hg18UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg3886532
hg1986532
hg1886532
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv608402, nsv608403
SamplesHGDP00602
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)dgv11611n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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