A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762117



Internal ID18389677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:7968969..7973155hg38UCSC Ensembl
Outerchr4:7968772..7973372hg38UCSC Ensembl
Innerchr4:7970696..7974882hg19UCSC Ensembl
Outerchr4:7970499..7975099hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg384601
hg194601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563370
Supporting Variants
Samples
Known GenesABLIM2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762117
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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