A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7345n54



Internal ID18999521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237645391..237647452hg38UCSC Ensembl
chr2:238554034..238556095hg19UCSC Ensembl
chr2:238218773..238220834hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382062
hg192062
hg182062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584741, nsv584742
Samples
Known GenesLRRFIP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7345n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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