A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6460637



Internal ID9861395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:106801899..106804283hg38UCSC Ensembl
Outerchr2:106801862..106804333hg38UCSC Ensembl
Innerchr2:107418355..107420739hg19UCSC Ensembl
Outerchr2:107418318..107420789hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg382472
hg192472
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2670283
Supporting Variants
SamplesNA20531
Known GenesST6GAL2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6460637
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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