A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1003688



Internal ID7068793
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:23276643..23277771hg38UCSC Ensembl
Outerchr1:23603136..23604264hg19UCSC Ensembl
Outerchr1:23475723..23476851hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg387691
hg197691
hg187691
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564590
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1003688
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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