A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9738475



Internal ID18366018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:51874840..51880712hg38UCSC Ensembl
Outerchr6:51874627..51881070hg38UCSC Ensembl
Innerchr6:51739638..51745510hg19UCSC Ensembl
Outerchr6:51739425..51745868hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg386444
hg196444
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3539728
Supporting Variants
Samples
Known GenesPKHD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9738475
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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