A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731958



Internal ID10315594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:40113435..40114393hg38UCSC Ensembl
Outerchr6:40081174..40082132hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6915086, essv6676580, essv6923082, essv6926824, essv6730896, essv6795599, essv6745937, essv6701087, essv6896774, essv6761020, essv6782225, essv6786407, essv6974785, essv6875730, essv6855232, essv6963738, essv6893537, essv6711850, essv6849137, essv6887921, essv6723249, essv6767548, essv6798872, essv6770839, essv6947804, essv6872770, essv6671108, essv6802575, essv6939024, essv6694168
SamplesSSM008, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM039, SSM009, SSM073, SSM042, SSM092, SSM047, SSM018, SSM069, SSM029, SSM019, SSM032, SSM031, SSM086, SSM068, SSM072, SSM016, SSM037, SSM022, SSM091, SSM055, SSM099, SSM098, SSM012
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)esv2731958
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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