A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941967



Internal ID10050463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:203529333..203529674hg38UCSC Ensembl
Outerchr1:203498461..203498802hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721751
Supporting Variants
SamplesSSM023
Known Genes
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)essv6941967
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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