A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5591047



Internal ID8568450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76515699..76534405hg38UCSC Ensembl
Outerchr7:76515228..76534775hg38UCSC Ensembl
Innerchr7:76145016..76163722hg19UCSC Ensembl
Outerchr7:76144545..76164092hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg3819548
hg1919548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666635
Supporting Variants
SamplesHG00331
Known GenesUPK3B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5591047
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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