A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14241700



Internal ID2237198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94101353..94105275hg38UCSC Ensembl
Innerchr11:94101358..94105271hg38UCSC Ensembl
Outerchr11:94101349..94105280hg38UCSC Ensembl
chr11:93834519..93838441hg19UCSC Ensembl
Innerchr11:93834524..93838437hg19UCSC Ensembl
Outerchr11:93834515..93838446hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg383923
hg193923
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627307
Supporting Variants
SamplesHG02009
Known GenesHEPHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14241700
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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