A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737304



Internal ID9971641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:92571200..92571415hg38UCSC Ensembl
Outerchr8:93583428..93583643hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6778864, essv6911997
SamplesSSM067, SSM015
Known Genes
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)esv2737304
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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