A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627874



Internal ID7014699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118617338..118620914hg38UCSC Ensembl
Innerchr11:118617338..118620914hg38UCSC Ensembl
Outerchr11:118617100..118621138hg38UCSC Ensembl
chr11:118488053..118491629hg19UCSC Ensembl
Innerchr11:118488053..118491629hg19UCSC Ensembl
Outerchr11:118487815..118491853hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg383577
hg193577
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14293209
SamplesHG00556
Known GenesPHLDB1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627874
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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