A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3566601



Internal ID18767677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:126550458..126550662hg38UCSC Ensembl
Outerchr5:126550418..126550693hg38UCSC Ensembl
Innerchr5:125886150..125886354hg19UCSC Ensembl
Outerchr5:125886110..125886385hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9765348
Samples
Known GenesALDH7A1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3566601
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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