A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726870



Internal ID9961178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3227303..3227748hg38UCSC Ensembl
Outerchr4:3229030..3229475hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38446
hg19446
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794062, essv6777625, essv6880960, essv6733959, essv6781635
SamplesSSM071, SSM067, SSM094, SSM068, SSM049
Known GenesHTT
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
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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