A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678250



Internal ID9944355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44243701..44245600hg38UCSC Ensembl
chr13:44817837..44819736hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6181383, essv6506358, essv5955397, essv5838970, essv5799368, essv6408613, essv6550950, essv6092027, essv6044496
SamplesNA12842, NA20508, HG01066, NA20816, NA20752, NA20759, HG00331, HG00265, NA12347
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678250
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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