A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14269248



Internal ID4271064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:106080921..106085395hg38UCSC Ensembl
Innerchr11:106080921..106085395hg38UCSC Ensembl
Outerchr11:106080696..106085633hg38UCSC Ensembl
chr11:105951648..105956122hg19UCSC Ensembl
Innerchr11:105951648..105956122hg19UCSC Ensembl
Outerchr11:105951423..105956360hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg384475
hg194475
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627623
Supporting Variants
SamplesHG02699
Known GenesAASDHPPT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14269248
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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