A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6854618



Internal ID10252639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:145526550..145527868hg38UCSC Ensembl
Outerchr4:146447702..146449020hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg381319
hg191319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728492
Supporting Variants
SamplesSSM087
Known GenesSMAD1
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)essv6854618
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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