A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2716n54



Internal ID22770611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74182279..74285274hg38UCSC Ensembl
chr12:74576059..74679054hg19UCSC Ensembl
chr12:72862326..72965321hg18UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg38102996
hg19102996
hg18102996
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv559396, nsv559395
Samples
Known GenesLOC100507377
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2716n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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