A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627876



Internal ID7014701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118656725..118712380hg38UCSC Ensembl
Innerchr11:118656875..118712230hg38UCSC Ensembl
Outerchr11:118656575..118712530hg38UCSC Ensembl
chr11:118527435..118583089hg19UCSC Ensembl
Innerchr11:118527585..118582939hg19UCSC Ensembl
Outerchr11:118527285..118583239hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3855656
hg1955655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv234e214
Supporting Variantsessv14293212, essv14293211
SamplesHG00142, HG02769
Known GenesPHLDB1, TREH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627876
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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