A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667293



Internal ID9933398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210105983..210107252hg38UCSC Ensembl
chr2:210970707..210971976hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381270
hg191270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6522251, essv6578004, essv5957412, essv5782151, essv5707602, essv5742289
SamplesNA19399, NA19377, HG00473, HG01108, NA19376, NA19438
Known GenesKANSL1L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667293
Frequency
Sample Size1151
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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