A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728952



Internal ID10312588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:186625830..186626414hg38UCSC Ensembl
Outerchr4:187546984..187547568hg19UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38585
hg19585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844645, essv6974145, essv6918403
SamplesSSM029, SSM017, SSM085
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)esv2728952
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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