A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956415



Internal ID10065145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186693393..186693685hg38UCSC Ensembl
Outerchr4:187614547..187614839hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728957
Supporting Variants
SamplesSSM026
Known GenesFAT1
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)essv6956415
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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