A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726869



Internal ID3277365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3227112..3228028hg38UCSC Ensembl
Outerchr4:3228839..3229755hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38917
hg19917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6794062, essv6777625, essv6880960, essv6934072, essv6733959, essv6781635
SamplesSSM071, SSM067, SSM094, SSM021, 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)esv2726869
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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