A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566139



Internal ID18420529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:78278392..78278629hg38UCSC Ensembl
Outerchr5:78278314..78278685hg38UCSC Ensembl
Innerchr5:77574216..77574453hg19UCSC Ensembl
Outerchr5:77574138..77574509hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9764886
Samples
Known GenesAP3B1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566139
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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