A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6829n54



Internal ID22774724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43257417..43326810hg38UCSC Ensembl
chr2:43484556..43553949hg19UCSC Ensembl
chr2:43338060..43407453hg18UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3869394
hg1969394
hg1869394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581655, nsv581654
SamplesNINDS_102
Known GenesTHADA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6829n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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