A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14340468



Internal ID4342284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4279530..4280115hg38UCSC Ensembl
Innerchr12:4279545..4280101hg38UCSC Ensembl
Outerchr12:4279516..4280130hg38UCSC Ensembl
chr12:4388696..4389281hg19UCSC Ensembl
Innerchr12:4388711..4389267hg19UCSC Ensembl
Outerchr12:4388682..4389296hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628356
Supporting Variants
SamplesNA19077
Known GenesCCND2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14340468
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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