A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2742831



Internal ID9977115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161558354..161639784hg38UCSC Ensembl
Outerchr1:161528144..161609574hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881431
hg1981431
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv38e201
Supporting Variantsessv6917559
SamplesSSM017
Known GenesFCGR2C, FCGR3B, HSPA7
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)esv2742831
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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