A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738445



Internal ID18713112
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:48817181..48817562hg38UCSC Ensembl
Outerchr6:48817174..48817635hg38UCSC Ensembl
Innerchr6:48784818..48785199hg19UCSC Ensembl
Outerchr6:48784811..48785272hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539698
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738445
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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