A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9739246



Internal ID18713492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:134268863..134273362hg38UCSC Ensembl
Outerchr6:134268363..134273862hg38UCSC Ensembl
Innerchr6:134590001..134594500hg19UCSC Ensembl
Outerchr6:134589501..134595000hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3540499
Supporting Variants
Samples
Known GenesSGK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9739246
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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