A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2389n54



Internal ID20135813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:14483180..14490576hg38UCSC Ensembl
chr12:14636114..14643510hg19UCSC Ensembl
chr12:14527381..14534777hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg387397
hg197397
hg187397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557609, nsv557610
Samples
Known GenesATF7IP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2389n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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