A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793386



Internal ID10200113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113497165..113503297hg38UCSC Ensembl
Outerchr1:114039787..114045919hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg386133
hg196133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716440
Supporting Variants
SamplesSSM071
Known GenesMAGI3
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)essv6793386
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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