A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726968



Internal ID10310604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:4596647..4599207hg38UCSC Ensembl
Outerchr4:4598374..4600934hg19UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg382561
hg192561
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6878178
SamplesSSM093
Known GenesSTX18-AS1
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)esv2726968
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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