A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14329787



Internal ID4331603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:513907..571080hg38UCSC Ensembl
chr12:623073..680246hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3857174
hg1957174
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628245
Supporting Variants
SamplesHG02140
Known GenesB4GALNT3, NINJ2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14329787
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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