A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737504



Internal ID10321140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:120669416..120669749hg38UCSC Ensembl
Outerchr8:121681656..121681989hg19UCSC Ensembl
Cytoband8q24.12
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6814948, essv6778882, essv6856290, essv6684603, essv6712496, essv6884715, essv6976064, essv6698379, essv6819017, essv6958238, essv6723927, essv6870319, essv6861154, essv6827116, essv6799606, essv6672195, essv6808947, essv6805957, essv6716204, essv6890799, essv6823069, essv6709025, essv6850262
SamplesSSM075, SSM045, SSM011, SSM079, SSM087, SSM038, SSM097, SSM074, SSM042, SSM041, SSM090, SSM029, SSM026, SSM031, SSM067, SSM086, SSM072, SSM078, SSM080, SSM077, SSM095, SSM034, SSM043
Known GenesSNTB1
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)esv2737504
Frequency
Sample Size96
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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