A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728722



Internal ID9963037
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:169229821..169230226hg38UCSC Ensembl
Outerchr4:170150972..170151377hg19UCSC Ensembl
Cytoband4q33
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956361, essv6833445
SamplesSSM082, SSM026
Known GenesSH3RF1
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)esv2728722
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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