A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727104



Internal ID9961412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8233992..8234176hg38UCSC Ensembl
Outerchr4:8235719..8235903hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv816e201
Supporting Variantsessv6973746, essv6864874, essv6670174, essv6794082, essv6956031, essv6923074, essv6836886, essv6910786
SamplesSSM083, SSM071, SSM029, SSM026, SSM089, SSM003, SSM031, SSM015
Known GenesSH3TC1
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)esv2727104
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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