A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6944n54



Internal ID22774839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:83000131..83123080hg38UCSC Ensembl
chr2:83227255..83350204hg19UCSC Ensembl
chr2:83080766..83203715hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38122950
hg19122950
hg18122950
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582357, nsv582359, nsv582358
Samples1780862042_A, 1780854261_A, 1782681317_A, 1780862176_A, NINDS_44, 1780862432_A
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6944n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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