A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736710



Internal ID9971042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:19197422..19198331hg38UCSC Ensembl
Outerchr8:19054932..19055841hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38910
hg19910
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731473, essv6923645, essv6870250, essv6755023, essv6782848, essv6890716, essv6933630, essv6687775, essv6958083, essv6975909, essv6791171, essv6822980, essv6749201
SamplesSSM090, SSM035, SSM097, SSM056, SSM029, SSM003, SSM047, SSM079, SSM068, SSM026, SSM018, SSM058, 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)esv2736710
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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