A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6480061



Internal ID9457464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:32999395..33002225hg38UCSC Ensembl
chr2:33224462..33227292hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382831
hg192831
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667427
Supporting Variants
SamplesNA18572
Known GenesLTBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6480061
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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