A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726870



Internal ID5037602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3229030..3229475hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6794062, essv6777625, essv6880960, essv6733959, essv6781635
SamplesSSM071, SSM067, SSM094, SSM068, SSM049
Known GenesHTT
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2726870
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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