A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732877



Internal ID14187978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30933385..30933386hg38UCSC Ensembl
Outerchr12:30933226..30933546hg38UCSC Ensembl
Innerchr12:31086319..31086320hg19UCSC Ensembl
Outerchr12:31086160..31086480hg19UCSC Ensembl
Innerchr12:30977587..30977586hg18UCSC Ensembl
Outerchr12:30977427..30977747hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38321
hg19321
hg18321
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303087
Supporting Variants
SamplesNA18948
Known GenesTSPAN11
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732877
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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