A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732905



Internal ID14185392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9604564..9605573hg38UCSC Ensembl
Outerchr12:9604364..9605773hg38UCSC Ensembl
Innerchr12:9757160..9758169hg19UCSC Ensembl
Outerchr12:9756960..9758369hg19UCSC Ensembl
Innerchr12:9648427..9649436hg18UCSC Ensembl
Outerchr12:9648227..9649636hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg381410
hg191410
hg181410
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303085
Supporting Variants
SamplesNA18948
Known GenesKLRB1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732905
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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