A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665048



Internal ID9584467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:76203177..76205053hg38UCSC Ensembl
Outerchr4:76203140..76205103hg38UCSC Ensembl
Innerchr4:77124330..77126206hg19UCSC Ensembl
Outerchr4:77124293..77126256hg19UCSC Ensembl
Cytoband4q21.1
Allele length
AssemblyAllele length
hg381964
hg191964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv958e199
Supporting Variantsessv5913536
SamplesNA18628
Known GenesSCARB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665048
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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