A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736215



Internal ID10319851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:1297917..1298041hg38UCSC Ensembl
Outerchr8:1246173..1246297hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38125
hg19125
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1183e201
Supporting Variantsessv6957989, essv6964634, essv6671975
SamplesSSM027, SSM026, SSM031
Known GenesLOC286083
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)esv2736215
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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