A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005636



Internal ID6717756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:155187511..155193592hg38UCSC Ensembl
Outerchr1:155159987..155163383hg19UCSC Ensembl
Outerchr1:153426611..153430007hg18UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg382532
hg192532
hg182532
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563924
SamplesHuRef
Known GenesMUC1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005636
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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