A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737767



Internal ID9972106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141252488..141253054hg38UCSC Ensembl
Outerchr8:142262587..142263153hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1226e201
Supporting Variantsessv6845531, essv6838095, essv6677269, essv6683832, essv6771526, essv6799628, essv6894210, essv6681074
SamplesSSM083, SSM065, SSM032, SSM033, SSM085, SSM072, SSM005, SSM012
Known GenesSLC45A4
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)esv2737767
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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