A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672735



Internal ID9938840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23897126..23897711hg38UCSC Ensembl
chr1:24223616..24224201hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg38586
hg19586
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5406869, essv5641765, essv6247228, essv6211625, essv5783832, essv6346688, essv5499108, essv6338724, essv5537794, essv5538620, essv5478506, essv5527943, essv6123658
SamplesHG00559, NA18599, NA18606, HG00654, HG00634, HG00543, HG00596, NA19000, NA18963, NA19083, HG00418, HG00698, HG00437
Known GenesCNR2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672735
Frequency
Sample Size1151
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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