A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2383n54



Internal ID22770278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11760426..11778325hg38UCSC Ensembl
chr12:11913360..11931259hg19UCSC Ensembl
chr12:11804627..11822526hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3817900
hg1917900
hg1817900
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557574, nsv557575
SamplesHGDP00890, 1780862252_A
Known GenesETV6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2383n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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