A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3396738



Internal ID15243701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:61340860..61340874hg38UCSC Ensembl
Innerchr2:61340862..61340872hg38UCSC Ensembl
Outerchr2:61340858..61340876hg38UCSC Ensembl
chr2:61567995..61568009hg19UCSC Ensembl
Innerchr2:61567997..61568007hg19UCSC Ensembl
Outerchr2:61567993..61568011hg19UCSC Ensembl
chr2:61421499..61421513hg18UCSC Ensembl
Innerchr2:61421501..61421511hg18UCSC Ensembl
Outerchr2:61421497..61421515hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863905
SamplesNA12005
Known GenesUSP34
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3396738
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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