A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736711



Internal ID9971043
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19197687..19198037hg38UCSC Ensembl
Outerchr8:19055197..19055547hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975909, essv6791171, essv6782848, essv6731473, essv6687775, essv6870250, essv6890716, essv6933630, essv6923645, essv6958083, essv6822980
SamplesSSM079, SSM097, SSM090, SSM047, SSM018, SSM029, SSM026, SSM035, SSM003, SSM068, SSM070
Known GenesLOC100128993
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)esv2736711
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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