A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726997



Internal ID5037729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:6301133..6301397hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6810851, essv6840691, essv6825772, essv6860083, essv6864862, essv6934082, essv6670160, essv6689909, essv6899194, essv6770266, essv6693581, essv6848193, essv6914593
SamplesSSM065, SSM086, SSM036, SSM084, SSM088, SSM089, SSM031, SSM016, SSM100, SSM021, SSM037, SSM076, SSM080
Known GenesWFS1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2726997
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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