A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2656466



Internal ID9922571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128993714..129000305hg38UCSC Ensembl
Outerchr4:128993557..129000458hg38UCSC Ensembl
Innerchr4:129914869..129921460hg19UCSC Ensembl
Outerchr4:129914712..129921613hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg386902
hg196902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6125456
SamplesHG00699
Known GenesSCLT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2656466
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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