A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7373n54



Internal ID22775268
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240819559..240823751hg38UCSC Ensembl
chr2:241758976..241763168hg19UCSC Ensembl
chr2:241407649..241411841hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384193
hg194193
hg184193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584880, nsv584876, nsv584878
Samples
Known GenesKIF1A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7373n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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