A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664903



Internal ID9584322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:88888805..88893473hg38UCSC Ensembl
Outerchr4:88888768..88893523hg38UCSC Ensembl
Innerchr4:89809956..89814624hg19UCSC Ensembl
Outerchr4:89809919..89814674hg19UCSC Ensembl
Cytoband4q22.1
Allele length
AssemblyAllele length
hg384756
hg194756
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6362526, essv6259510
SamplesHG00607, NA18599
Known GenesFAM13A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664903
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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