A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677189



Internal ID9943294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80182389..80187581hg38UCSC Ensembl
chr5:79478211..79483403hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg385193
hg195193
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5692754
SamplesHG00740
Known GenesSERINC5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677189
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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