A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2740916



Internal ID9975253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161558354..161639783hg38UCSC Ensembl
Outerchr1:161528144..161609573hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881430
hg1981430
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv38e201
Supporting Variantsessv6689363
SamplesSSM036
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)esv2740916
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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