A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14629374



Internal ID1770817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127708775..127784374hg38UCSC Ensembl
chr12:128193320..128268919hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3875600
hg1975600
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631121
Supporting Variants
SamplesHG01628
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14629374
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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