A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738037



Internal ID10321673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:143742275..143745954hg38UCSC Ensembl
Outerchr8:144824445..144828124hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg383680
hg193680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6691147, essv6734410
SamplesSSM036, SSM007
Known GenesFAM83H-AS1
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)esv2738037
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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