A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6245354



Internal ID8772715
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 Flag1
Merged StatusS
Merged Variantsesv2675819
Supporting Variants
SamplesHG00174
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6245354
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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