A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728246



Internal ID3278742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120807687..120807873hg38UCSC Ensembl
Outerchr4:121728842..121729028hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38187
hg19187
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6878302, essv6893111, essv6872412
SamplesSSM091, SSM093, SSM098
Known GenesPRDM5
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)esv2728246
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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