A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6889119



Internal ID9937003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161549724..161631124hg38UCSC Ensembl
Outerchr1:161519514..161600914hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg3881401
hg1981401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718873
Supporting Variants
SamplesSSM097
Known GenesFCGR2C, FCGR3A, 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)essv6889119
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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