A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14060188



Internal ID976777
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:24677140..24686673hg38UCSC Ensembl
Innerchr11:24677140..24686673hg38UCSC Ensembl
Outerchr11:24676640..24687173hg38UCSC Ensembl
chr11:24698686..24708219hg19UCSC Ensembl
Innerchr11:24698686..24708219hg19UCSC Ensembl
Outerchr11:24698186..24708719hg19UCSC Ensembl
Cytoband11p14.3
Allele length
AssemblyAllele length
hg389534
hg199534
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625681
Supporting Variants
SamplesHG00607
Known GenesLUZP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14060188
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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