A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731369



Internal ID9965686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:675504..675926hg38UCSC Ensembl
Outerchr6:675504..675926hg19UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6727029, essv6893395, essv6680296, essv6700938, essv6794540, essv6711727, essv6782075, essv6943245, essv6690322, essv6694048, essv6822356, essv6886926, essv6798726, essv6708314, essv6926681, essv6670963, essv6723124, essv6719301, essv6938885, essv6930341, essv6814220, essv6974600, essv6914980, essv6826273, essv6956823, essv6786275, essv6951765, essv6790392, essv6833670, essv6676439
SamplesSSM036, SSM071, SSM045, SSM046, SSM079, SSM039, SSM042, SSM041, SSM023, SSM069, SSM029, SSM096, SSM026, SSM019, SSM032, SSM031, SSM044, SSM033, SSM068, SSM072, SSM082, SSM020, SSM016, SSM080, SSM037, SSM077, SSM022, SSM070, SSM025, SSM098
Known GenesEXOC2
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)esv2731369
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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