A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838552



Internal ID9891682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:107007875..107008221hg38UCSC Ensembl
Outerchr11:106878601..106878947hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38347
hg19347
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745038, esv2745039
Supporting Variants
SamplesSSM083
Known GenesGUCY1A2
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)essv6838552
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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