A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673720



Internal ID9939825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:123037800..123082198hg38UCSC Ensembl
Outerchr4:123037763..123082248hg38UCSC Ensembl
Innerchr4:123958955..124003353hg19UCSC Ensembl
Outerchr4:123958918..124003403hg19UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg3844486
hg1944486
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5459678
SamplesHG00740
Known GenesSPATA5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673720
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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