A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6670174



Internal ID9740655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:8234017..8234177hg38UCSC Ensembl
Outerchr4:8235744..8235904hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38161
hg19161
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727105, esv2727104, esv2727103
Supporting Variants
SamplesSSM031
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)essv6670174
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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