A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005109



Internal ID7070205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151534763..151536669hg38UCSC Ensembl
Outerchr6:151855898..151857804hg19UCSC Ensembl
Outerchr6:151897591..151899497hg18UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg385266
hg195266
hg185266
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563698
SamplesHuRef
Known GenesCCDC170
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005109
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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