A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3539729



Internal ID18394119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51938703..51943702hg38UCSC Ensembl
Outerchr6:51938203..51944702hg38UCSC Ensembl
Innerchr6:51803501..51808500hg19UCSC Ensembl
Outerchr6:51803001..51809500hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9738476
Samples
Known GenesPKHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3539729
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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