A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6975n54



Internal ID22774870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99211270..99306504hg38UCSC Ensembl
chr2:99827733..99922967hg19UCSC Ensembl
chr2:99194165..99289399hg18UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3895235
hg1995235
hg1895235
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv582520, nsv582519, nsv582521
SamplesHGDP00136, HGDP00015
Known GenesLYG1, LYG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6975n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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