A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731853



Internal ID10315489
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32603220..32604466hg38UCSC Ensembl
Outerchr6:32570997..32572243hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg381247
hg191247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865583, essv6849107, essv6730880, essv6869741, essv6708438, essv6890220, essv6974754, essv6723230, essv6833781, essv6782198, essv6830171, essv6751580, essv6786391, essv6907558, essv6956986, essv6855207, essv6893525, essv6930424, essv6687238, essv6860852, essv6805431, essv6943419, essv6808415, essv6798848, essv6963711, essv6774581, essv6794642, essv6818201, essv6826394
SamplesSSM071, SSM027, SSM075, SSM045, SSM087, SSM097, SSM074, SSM088, SSM041, SSM057, SSM023, SSM090, SSM047, SSM069, SSM029, SSM026, SSM089, SSM035, SSM014, SSM086, SSM066, SSM068, SSM081, SSM072, SSM082, SSM020, SSM078, SSM080, SSM098
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)esv2731853
Frequency
Sample Size96
Observed Gain0
Observed Loss29
Observed Complex0
Frequencyn/a


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