A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14302425



Internal ID2743442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124905108..124908484hg38UCSC Ensembl
Innerchr11:124905108..124908484hg38UCSC Ensembl
Outerchr11:124904729..124908821hg38UCSC Ensembl
chr11:124775004..124778380hg19UCSC Ensembl
Innerchr11:124775004..124778380hg19UCSC Ensembl
Outerchr11:124774625..124778717hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg383377
hg193377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627990
Supporting Variants
SamplesHG02409
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14302425
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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