A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7347n54



Internal ID18999523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237645391..237650664hg38UCSC Ensembl
chr2:238554034..238559307hg19UCSC Ensembl
chr2:238218773..238224046hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385274
hg195274
hg185274
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584751, nsv584745, nsv584744, nsv584749, nsv584750
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7347n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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