A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1154861



Internal ID11971298
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51982239..51982239hg38UCSC Ensembl
chr6:51847037..51847037hg19UCSC Ensembl
chr6:51954996..51954996hg18UCSC Ensembl
Cytoband6p12.2
Allele length
AssemblyAllele length
hg38770
hg19770
hg18770
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3959670
SamplesHuRef
Known GenesPKHD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1154861
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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