A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14224193



Internal ID2418483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:88144523..88146607hg38UCSC Ensembl
Innerchr11:88144523..88146607hg38UCSC Ensembl
Outerchr11:88144463..88146729hg38UCSC Ensembl
chr11:87877691..87879775hg19UCSC Ensembl
Innerchr11:87877691..87879775hg19UCSC Ensembl
Outerchr11:87877631..87879897hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg382085
hg192085
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627144
Supporting Variants
SamplesHG02139
Known GenesRAB38
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14224193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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