A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989789



Internal ID7076374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:150411094..150411788hg38UCSC Ensembl
Outerchr1:150383570..150384264hg19UCSC Ensembl
Outerchr1:148650194..148650888hg18UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38695
hg19695
hg18695
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563716
SamplesHuRef
Known GenesRPRD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989789
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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