A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737178



Internal ID10320814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:74591204..74591960hg38UCSC Ensembl
Outerchr8:75503439..75504195hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38757
hg19757
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1212e201
Supporting Variantsessv6740540, essv6705670, essv6737449
SamplesSSM050, SSM040, SSM052
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)esv2737178
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer