A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728712



Internal ID9963027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168238241..168238642hg38UCSC Ensembl
Outerchr4:169159392..169159793hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38402
hg19402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6715143, essv6930074, essv6670517, essv6922714
SamplesSSM018, SSM031, SSM020, SSM043
Known GenesDDX60
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)esv2728712
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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