A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009462



Internal ID7059391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:163230731..163230731hg38UCSC Ensembl
chr6:163651763..163651763hg19UCSC Ensembl
chr6:163571753..163571753hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3576149
SamplesHuRef
Known GenesPACRG
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009462
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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