A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352459



Internal ID15199440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:91530001..91730797hg38UCSC Ensembl
Innerchr2:91530001..91729797hg38UCSC Ensembl
Outerchr2:91530001..91731797hg38UCSC Ensembl
chr2:91704525..91918823hg19UCSC Ensembl
Innerchr2:91705525..91917823hg19UCSC Ensembl
Outerchr2:91703525..91919823hg19UCSC Ensembl
chr2:91068252..91282550hg18UCSC Ensembl
Innerchr2:91069252..91281550hg18UCSC Ensembl
Outerchr2:91067252..91283550hg18UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38200797
hg19214299
hg18214299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8693761
SamplesNA19240
Known GenesLOC654342
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352459
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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