A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843502



Internal ID15084243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:132742418..132742931hg38UCSC Ensembl
Outerchr12:132742418..132742931hg38UCSC Ensembl
Innerchr12:133319004..133319517hg19UCSC Ensembl
Outerchr12:133319004..133319517hg19UCSC Ensembl
Innerchr12:131829590..131829077hg18UCSC Ensembl
Outerchr12:131829077..131829590hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38756
hg19756
hg18756
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310562
Supporting Variants
SamplesNA19240
Known GenesANKLE2
MethodSequencing
Analysismapreads
PlatformABI SOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843502
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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