A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563891



Internal ID6688274
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991485
Supporting Variants
SamplesHuRef
Known GenesCNR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563891
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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