A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736663



Internal ID10320299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:16139734..16139850hg38UCSC Ensembl
Outerchr8:15997243..15997359hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38117
hg19117
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6958069, essv6975898, essv6672039
SamplesSSM029, SSM026, SSM031
Known GenesMSR1
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)esv2736663
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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