A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6519520



Internal ID9496923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:104473838..104476344hg38UCSC Ensembl
Outerchr12:104473467..104476714hg38UCSC Ensembl
Innerchr12:104867616..104870122hg19UCSC Ensembl
Outerchr12:104867245..104870492hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg383248
hg193248
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2661506
Supporting Variants
SamplesHG00736
Known GenesCHST11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6519520
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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