A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2629n54



Internal ID18994805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52009326..52049869hg38UCSC Ensembl
chr12:52403110..52443653hg19UCSC Ensembl
chr12:50689377..50729920hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840544
hg1940544
hg1840544
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv558896, nsv558897
SamplesHGDP00857
Known GenesGRASP, NR4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2629n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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