A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14621447



Internal ID4623263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:122469383..122475935hg38UCSC Ensembl
chr12:122953930..122960482hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg386553
hg196553
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3630977
Supporting Variants
SamplesHG03886
Known GenesZCCHC8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14621447
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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