A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7343n54



Internal ID18999519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237542799..237544953hg38UCSC Ensembl
chr2:238451442..238453596hg19UCSC Ensembl
chr2:238116181..238118335hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382155
hg192155
hg182155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584735, nsv584733
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7343n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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