A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731438



Internal ID10315074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:1682523..1682873hg38UCSC Ensembl
Outerchr6:1682757..1683107hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848966, essv6890114, essv6670973, essv6811208, essv6884127, essv6865461, essv6822360, essv6860691, essv6719308, essv6926688, essv6826280, essv6687158, essv6963561, essv6700943, essv6723130, essv6855080, essv6818082, essv6711738, essv6974614, essv6782081, essv6854576, essv6907426, essv6794547, essv6943255, essv6956837
SamplesSSM071, SSM027, SSM045, SSM011, SSM079, SSM087, SSM097, SSM039, SSM042, SSM088, SSM023, SSM029, SSM026, SSM089, SSM019, SSM035, SSM031, SSM044, SSM014, SSM086, SSM068, SSM078, SSM080, SSM076, SSM095
Known GenesGMDS
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)esv2731438
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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