A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848401



Internal ID10247042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:102463709..102464441hg38UCSC Ensembl
Outerchr4:103384866..103385598hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg38733
hg19733
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728071, esv2728072
Supporting Variants
SamplesSSM086
Known Genes
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)essv6848401
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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