A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009711



Internal ID7074005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:71571226..71576268hg38UCSC Ensembl
Outerchr1:72036909..72041951hg19UCSC Ensembl
Outerchr1:71809497..71814539hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383772
hg193772
hg183772
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563850
SamplesHuRef
Known GenesNEGR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009711
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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