A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670573



Internal ID15097827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:67311552..67311686hg38UCSC Ensembl
Innerchr12:67311596..67311640hg38UCSC Ensembl
Outerchr12:67311506..67311730hg38UCSC Ensembl
chr12:67705332..67705466hg19UCSC Ensembl
Innerchr12:67705376..67705420hg19UCSC Ensembl
Outerchr12:67705286..67705510hg19UCSC Ensembl
chr12:65991599..65991733hg18UCSC Ensembl
Innerchr12:65991643..65991687hg18UCSC Ensembl
Outerchr12:65991553..65991777hg18UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg38135
hg19135
hg18135
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3341682
Supporting Variants
SamplesNA19240
Known GenesCAND1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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