A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7778993



Internal ID14577507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:110507149..110507150hg38UCSC Ensembl
Innerchr11:110507132..110507167hg38UCSC Ensembl
Outerchr11:110507131..110507168hg38UCSC Ensembl
chr11:110377873..110377874hg19UCSC Ensembl
Innerchr11:110377856..110377891hg19UCSC Ensembl
Outerchr11:110377855..110377892hg19UCSC Ensembl
chr11:109883083..109883084hg18UCSC Ensembl
Innerchr11:109883101..109883066hg18UCSC Ensembl
Outerchr11:109883065..109883102hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg386056
hg196056
hg186056
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303842
Supporting Variants
SamplesNA18952
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7778993
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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