A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2668876



Internal ID9588295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88077765..88081059hg38UCSC Ensembl
Outerchr4:88077608..88081212hg38UCSC Ensembl
Innerchr4:88998917..89002211hg19UCSC Ensembl
Outerchr4:88998760..89002364hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg383605
hg193605
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5479528
SamplesHG00309
Known GenesPKD2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2668876
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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