A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7736078



Internal ID14462002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123946014..123946015hg38UCSC Ensembl
Outerchr12:123945889..123946140hg38UCSC Ensembl
Innerchr12:124430561..124430562hg19UCSC Ensembl
Outerchr12:124430436..124430687hg19UCSC Ensembl
Innerchr12:122996515..122996514hg18UCSC Ensembl
Outerchr12:122996389..122996640hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302753
Supporting Variants
SamplesNA19093
Known GenesCCDC92
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7736078
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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