A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004965



Internal ID7070061
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:167064819..167078699hg38UCSC Ensembl
Outerchr1:167034056..167047936hg19UCSC Ensembl
Outerchr1:165300680..165314560hg18UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg3813881
hg1913881
hg1813881
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564875
SamplesHuRef
Known GenesGPA33
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004965
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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