A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7277365



Internal ID10555647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244582910..244582969hg38UCSC Ensembl
chr1:244746212..244746271hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3860
hg1960
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3007798
Supporting Variants
SamplesHuRef
Known GenesC1orf101
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7277365
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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