A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548115



Internal ID18402505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:88520523..88523988hg38UCSC Ensembl
Outerchr11:88520487..88524260hg38UCSC Ensembl
Innerchr11:88253691..88257156hg19UCSC Ensembl
Outerchr11:88253655..88257428hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg383774
hg193774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9746862
Samples
Known GenesGRM5, GRM5-AS1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548115
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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