A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14633249



Internal ID3168957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129917789..130098316hg38UCSC Ensembl
chr12:130402334..130582861hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180528
hg19180528
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631192
Supporting Variants
SamplesHG02787
Known GenesLOC100190940
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14633249
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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