A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7335n54



Internal ID22775230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230871895..230878149hg38UCSC Ensembl
chr2:231736610..231742864hg19UCSC Ensembl
chr2:231444854..231451108hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg386255
hg196255
hg186255
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584676, nsv584677
Samples
Known GenesITM2C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7335n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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