A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001605



Internal ID6713741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:44617439..44622491hg38UCSC Ensembl
Outerchr1:45083111..45088163hg19UCSC Ensembl
Outerchr1:44855698..44860750hg18UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383112
hg193112
hg183112
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565131
SamplesHuRef
Known GenesRNF220
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001605
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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