A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675819



Internal ID9941924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:140624566..140626622hg38UCSC Ensembl
chr5:140004151..140006207hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg382057
hg192057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1042e199
Supporting Variantsessv6426376, essv6245354
SamplesNA12341, HG00174
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675819
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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