A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863993



Internal ID13316434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113050347..113050358hg38UCSC Ensembl
Innerchr2:113050326..113050379hg38UCSC Ensembl
Outerchr2:113050315..113050390hg38UCSC Ensembl
chr2:113807924..113807935hg19UCSC Ensembl
Innerchr2:113807903..113807956hg19UCSC Ensembl
Outerchr2:113807892..113807967hg19UCSC Ensembl
chr2:113524395..113524406hg18UCSC Ensembl
Innerchr2:113524427..113524374hg18UCSC Ensembl
Outerchr2:113524363..113524438hg18UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3369496
Supporting Variants
SamplesNA12005
Known GenesIL36B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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