A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737777



Internal ID9972116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141335221..141335496hg38UCSC Ensembl
Outerchr8:142345320..142345595hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38276
hg19276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1228e201
Supporting Variantsessv6944286, essv6861719, essv6795445, essv6894165, essv6870337
SamplesSSM071, SSM088, SSM023, SSM090, SSM098
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)esv2737777
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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