A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7275n54



Internal ID22775170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212253251..212346343hg38UCSC Ensembl
chr2:213117976..213211067hg19UCSC Ensembl
chr2:212826221..212919312hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg3893093
hg1993092
hg1893092
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584355, nsv584348, nsv584354, nsv584349
Samples1780862001_A
Known GenesERBB4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7275n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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