A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671963



Internal ID9938068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:129974111..129988391hg38UCSC Ensembl
Outerchr5:129974074..129988441hg38UCSC Ensembl
Innerchr5:129309804..129324084hg19UCSC Ensembl
Outerchr5:129309767..129324134hg19UCSC Ensembl
Cytoband5q23.3
Allele length
AssemblyAllele length
hg3814368
hg1914368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6204922
SamplesHG00560
Known GenesCHSY3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671963
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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