A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3349536



Internal ID14849801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112339312..112339326hg38UCSC Ensembl
Innerchr12:112339303..112339333hg38UCSC Ensembl
Outerchr12:112339291..112339347hg38UCSC Ensembl
chr12:112777116..112777130hg19UCSC Ensembl
Innerchr12:112777107..112777137hg19UCSC Ensembl
Outerchr12:112777095..112777151hg19UCSC Ensembl
chr12:111261499..111261513hg18UCSC Ensembl
Innerchr12:111261520..111261490hg18UCSC Ensembl
Outerchr12:111261478..111261534hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672239, essv8672238
SamplesNA19239, NA19240
Known GenesHECTD4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3349536
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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