A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674141



Internal ID9593560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92770471..92772277hg38UCSC Ensembl
chr1:93236028..93237834hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg381807
hg191807
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6073198, essv6435560, essv6188692, essv6015631, essv6479827
SamplesHG00160, HG00310, HG00189, HG00326, HG00334
Known GenesEVI5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674141
Frequency
Sample Size1151
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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