A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6675322



Internal ID10091999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:166109776..166109909hg38UCSC Ensembl
Outerchr1:166079013..166079146hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg38134
hg19134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719162
Supporting Variants
SamplesSSM032
Known GenesFAM78B
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)essv6675322
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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