A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6744n54



Internal ID18998920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26973431..27151141hg38UCSC Ensembl
chr2:27196299..27374009hg19UCSC Ensembl
chr2:27049803..27227513hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38177711
hg19177711
hg18177711
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581242, nsv581243
SamplesHGDP00859
Known GenesABHD1, AGBL5, C2orf53, CGREF1, EMILIN1, KHK, MAPRE3, OST4, PREB, TCF23, TMEM214
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6744n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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