A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737072



Internal ID10320708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:61033325..61033515hg38UCSC Ensembl
Outerchr8:61945884..61946074hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38191
hg19191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1209e201
Supporting Variantsessv6944204, essv6948435, essv6939690, essv6716172, essv6752107, essv6964755, essv6908248, essv6873251, essv6850182, essv6818955, essv6975981, essv6811783, essv6677190, essv6866360, essv6856217, essv6890753, essv6904719, essv6904341, essv6672118, essv6838038
SamplesSSM083, SSM027, SSM024, SSM087, SSM097, SSM013, SSM002, SSM057, SSM023, SSM029, SSM089, SSM032, SSM031, SSM014, SSM086, SSM078, SSM076, SSM022, SSM091, SSM043
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)esv2737072
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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