A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1493351



Internal ID12309787
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51982186..51982186hg38UCSC Ensembl
chr6:51846984..51846984hg19UCSC Ensembl
chr6:51954943..51954943hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38129
hg19129
hg18129
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4032680
SamplesHuRef
Known GenesPKHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1493351
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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