A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738506



Internal ID18712694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:54915559..54915815hg38UCSC Ensembl
Outerchr6:54915502..54915864hg38UCSC Ensembl
Innerchr6:54780357..54780613hg19UCSC Ensembl
Outerchr6:54780300..54780662hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38363
hg19363
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539759
Supporting Variants
Samples
Known GenesFAM83B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738506
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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