A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738457



Internal ID18713124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:49961984..49962109hg38UCSC Ensembl
Outerchr6:49961982..49962111hg38UCSC Ensembl
Innerchr6:49929697..49929822hg19UCSC Ensembl
Outerchr6:49929695..49929824hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38130
hg19130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539710
Supporting Variants
Samples
Known GenesDEFB114
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738457
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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