A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671474



Internal ID9590893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:393670..481238hg38UCSC Ensembl
Outerchr19:393636..481273hg38UCSC Ensembl
Innerchr19:393670..481238hg19UCSC Ensembl
Outerchr19:393636..481273hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3887638
hg1987638
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5797102
SamplesNA18616
Known GenesC2CD4C, ODF3L2, SHC2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671474
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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