A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7173n54



Internal ID20140597
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:176070797..176134284hg38UCSC Ensembl
chr2:176935525..176999012hg19UCSC Ensembl
chr2:176643771..176707258hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3863488
hg1963488
hg1863488
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv583672, nsv583671
Samples
Known GenesEVX2, HOXD10, HOXD11, HOXD12, HOXD13, HOXD8, HOXD9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7173n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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