A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676055



Internal ID9942160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:44016924..44018936hg38UCSC Ensembl
Outerchr22:44016884..44018986hg38UCSC Ensembl
Innerchr22:44412804..44414816hg19UCSC Ensembl
Outerchr22:44412764..44414866hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg382103
hg192103
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6554988
SamplesNA19379
Known GenesPARVB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676055
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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