A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3564788



Internal ID18419178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:150954492..150963848hg38UCSC Ensembl
Outerchr4:150952849..150964848hg38UCSC Ensembl
Innerchr4:151875644..151885000hg19UCSC Ensembl
Outerchr4:151874001..151886000hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg3812000
hg1912000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9763535
Samples
Known GenesLRBA
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3564788
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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