A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731935



Internal ID10315571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:37753319..37754238hg38UCSC Ensembl
Outerchr6:37721095..37722014hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762649, essv6790518, essv6687251, essv6754546, essv6947802, essv6830185, essv6963736, essv6736961, essv6708451, essv6943443, essv6951911, essv6957010, essv6728932, essv6694167, essv6855227, essv6765027, essv6739974, essv6849134, essv6774599, essv6896773, essv6751601, essv6818223, essv6757402
SamplesSSM059, SSM027, SSM024, SSM087, SSM050, SSM041, SSM057, SSM023, SSM058, SSM062, SSM026, SSM035, SSM086, SSM066, SSM081, SSM007, SSM078, SSM037, SSM070, SSM025, SSM099, SSM052, SSM063
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)esv2731935
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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