A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2435n54



Internal ID22770330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:28375375..28443396hg38UCSC Ensembl
chr12:28528308..28596329hg19UCSC Ensembl
chr12:28419575..28487596hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3868022
hg1968022
hg1868022
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557880, nsv557881
SamplesHGDP01385, 1780862576_A
Known GenesCCDC91
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2435n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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