A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673013



Internal ID9939118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:8187695..8190005hg38UCSC Ensembl
chr1:8247755..8250065hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg382311
hg192311
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6425063, essv6250393, essv6532958, essv6127302, essv5459203, essv6386418, essv6234149, essv6455515, essv6226674, essv5869405, essv5590716
SamplesNA19704, NA19107, NA19374, NA19373, NA19471, NA19437, NA19452, HG01107, NA19472, NA19213, NA18505
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673013
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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