A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678103



Internal ID9944208
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134127035..134128127hg38UCSC Ensembl
chr5:133462726..133463818hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg381093
hg191093
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5609885, essv6134854
SamplesHG00501, HG00512
Known GenesTCF7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678103
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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