A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6816748



Internal ID10222291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:175426792..175426959hg38UCSC Ensembl
Outerchr1:175395928..175396095hg19UCSC Ensembl
Cytoband1q25.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719640, esv2719651
Supporting Variants
SamplesSSM078
Known GenesTNR
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)essv6816748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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