A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8651795



Internal ID14753024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123584129..123584474hg38UCSC Ensembl
Innerchr11:123584129..123584474hg38UCSC Ensembl
Outerchr11:123583841..123584906hg38UCSC Ensembl
chr11:123454837..123455182hg19UCSC Ensembl
Innerchr11:123454837..123455182hg19UCSC Ensembl
Outerchr11:123454549..123455614hg19UCSC Ensembl
chr11:122960047..122960392hg18UCSC Ensembl
Innerchr11:122960047..122960392hg18UCSC Ensembl
Outerchr11:122959759..122960824hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38346
hg19346
hg18346
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3449847
Supporting Variants
SamplesNA19240
Known GenesGRAMD1B
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8651795
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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