A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737793



Internal ID9972132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141496918..141497356hg38UCSC Ensembl
Outerchr8:142507018..142507456hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38439
hg19439
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952656, essv6709041, essv6834412, essv6823089, essv6976116, essv6958283, essv6944287, essv6723955, essv6701853, essv6778905, essv6720164, essv6681075, essv6716224, essv6879110, essv6694951, essv6683843, essv6927446, essv6970168, essv6782962
SamplesSSM045, SSM079, SSM039, SSM093, SSM041, SSM023, SSM028, SSM029, SSM026, SSM019, SSM067, SSM044, SSM033, SSM068, SSM082, SSM005, SSM037, SSM025, SSM043
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)esv2737793
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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