A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737796



Internal ID9972135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:141507165..141507900hg38UCSC Ensembl
Outerchr8:142517265..142518000hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38736
hg19736
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919592, essv6716225, essv6681076, essv6778906, essv6970169, essv6939769, essv6791271, essv6771528, essv6723956
SamplesSSM045, SSM065, SSM028, SSM017, SSM067, SSM033, SSM022, SSM070, 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)esv2737796
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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