A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14310155



Internal ID2610948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129236310..129240259hg38UCSC Ensembl
Innerchr11:129236312..129240257hg38UCSC Ensembl
Outerchr11:129236308..129240261hg38UCSC Ensembl
chr11:129106205..129110154hg19UCSC Ensembl
Innerchr11:129106207..129110152hg19UCSC Ensembl
Outerchr11:129106203..129110156hg19UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg383950
hg193950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628061
Supporting Variants
SamplesHG02312
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14310155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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