A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14288024



Internal ID1100711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113845464..113860627hg38UCSC Ensembl
Innerchr11:113845464..113860627hg38UCSC Ensembl
Outerchr11:113844964..113861127hg38UCSC Ensembl
chr11:113716186..113731349hg19UCSC Ensembl
Innerchr11:113716186..113731349hg19UCSC Ensembl
Outerchr11:113715686..113731849hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3815164
hg1915164
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627781
Supporting Variants
SamplesHG00732
Known GenesUSP28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14288024
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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