A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1525166



Internal ID12688288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82934947..82934947hg38UCSC Ensembl
chr6:83644666..83644666hg19UCSC Ensembl
chr6:83701385..83701385hg18UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3730409
SamplesHuRef
Known GenesUBE3D
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1525166
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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