A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7344n54



Internal ID18999520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:237542799..237545511hg38UCSC Ensembl
chr2:238451442..238454154hg19UCSC Ensembl
chr2:238116181..238118893hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382713
hg192713
hg182713
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584738, nsv584737, nsv584740, nsv584739, nsv584734
Samples
Known GenesMLPH
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7344n54
Frequency
Sample Size17421
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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