A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728048



Internal ID9962360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101038964..101040039hg38UCSC Ensembl
Outerchr4:101960121..101961196hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg381076
hg191076
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683594, essv6896452, essv6802241, essv6790063, essv6785950, essv6878281, essv6693717, essv6884154, essv6844567, essv6899328
SamplesSSM100, SSM073, SSM093, SSM069, SSM085, SSM037, SSM070, SSM034, SSM099, SSM012
Known GenesPPP3CA
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)esv2728048
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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