A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2852124



Internal ID10525104
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:62686164..62686503hg38UCSC Ensembl
Outerchr1:63151835..63152174hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7121691
SamplesHuRef
Known GenesDOCK7
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv2852124
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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