A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1005520



Internal ID7070615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:56365370..56373973hg38UCSC Ensembl
Outerchr1:56831042..56839645hg19UCSC Ensembl
Outerchr1:56603630..56612233hg18UCSC Ensembl
Cytoband1p32.2
Allele length
AssemblyAllele length
hg388604
hg198604
hg188604
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565594
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1005520
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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