A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991485



Internal ID6727449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23882247..23888394hg38UCSC Ensembl
Outerchr1:24208737..24214884hg19UCSC Ensembl
Outerchr1:24081324..24087471hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg382622
hg192622
hg182622
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563891
SamplesHuRef
Known GenesCNR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991485
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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