A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2832n54



Internal ID22770727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:100545006..100548937hg38UCSC Ensembl
chr12:100938784..100942715hg19UCSC Ensembl
chr12:99462915..99466846hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383932
hg193932
hg183932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559997, nsv559998
Samples
Known GenesNR1H4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2832n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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