A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3540110



Internal ID18741186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87576082..87576499hg38UCSC Ensembl
Outerchr6:87576020..87576588hg38UCSC Ensembl
Innerchr6:88285800..88286217hg19UCSC Ensembl
Outerchr6:88285738..88286306hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38569
hg19569
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738857
Samples
Known GenesRARS2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3540110
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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