A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6847n54



Internal ID22774742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47020972..47036093hg38UCSC Ensembl
chr2:47248111..47263232hg19UCSC Ensembl
chr2:47101615..47116736hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3815122
hg1915122
hg1815122
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581752, nsv581753
SamplesHGDP00747
Known GenesTTC7A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6847n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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