A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14317600



Internal ID4319416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:132423818..132426870hg38UCSC Ensembl
Innerchr11:132423818..132426870hg38UCSC Ensembl
Outerchr11:132423318..132427370hg38UCSC Ensembl
chr11:132293712..132296764hg19UCSC Ensembl
Innerchr11:132293712..132296764hg19UCSC Ensembl
Outerchr11:132293212..132297264hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg383053
hg193053
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628125
Supporting Variants
SamplesHG02116
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14317600
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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