A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001028



Internal ID6713169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:975675..978354hg38UCSC Ensembl
Outerchr1:911055..913734hg19UCSC Ensembl
Outerchr1:900918..903597hg18UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg382415
hg192415
hg182415
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565170
SamplesHuRef
Known GenesC1orf170
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001028
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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