A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2738674



Internal ID10322310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:85027023..85027484hg38UCSC Ensembl
Outerchr9:87641938..87642399hg19UCSC Ensembl
Cytoband9q21.33
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6935601, essv6830880, essv6695047, essv6677361, essv6944390, essv6701958, essv6976263, essv6787273
SamplesSSM039, SSM023, SSM021, SSM069, SSM029, SSM032, SSM081, SSM037
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)esv2738674
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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