A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7375n54



Internal ID22775270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240873051..240879110hg38UCSC Ensembl
chr2:241812468..241818527hg19UCSC Ensembl
chr2:241461141..241467200hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg386060
hg196060
hg186060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584884, nsv584885
Samples
Known GenesAGXT
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7375n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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