A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1005e201



Internal ID20125892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52051609..52052007hg38UCSC Ensembl
chr6:51916407..51916805hg19UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38399
hg19399
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2732078, esv2732076
SamplesSSM020, SSM071, SSM029, SSM037
Known GenesPKHD1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)dgv1005e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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