A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3410643



Internal ID14910917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33179656..33179666hg38UCSC Ensembl
Innerchr2:33179648..33179672hg38UCSC Ensembl
Outerchr2:33179640..33179682hg38UCSC Ensembl
chr2:33404723..33404733hg19UCSC Ensembl
Innerchr2:33404715..33404739hg19UCSC Ensembl
Outerchr2:33404707..33404749hg19UCSC Ensembl
chr2:33258227..33258237hg18UCSC Ensembl
Innerchr2:33258243..33258219hg18UCSC Ensembl
Outerchr2:33258211..33258253hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38263
hg19263
hg18263
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674754, essv8674755
SamplesNA19238, NA19240
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3410643
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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