A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737788



Internal ID9972127
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141469403..141469620hg38UCSC Ensembl
Outerchr8:142479503..142479720hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6861331, essv6964875, essv6782961, essv6866449, essv6720163, essv6694950, essv6879108, essv6723952
SamplesSSM027, SSM045, SSM011, SSM093, SSM089, SSM044, SSM068, SSM037
Known GenesMROH5
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)esv2737788
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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