A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6824996



Internal ID9879293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:31578394..31579144hg38UCSC Ensembl
Outerchr1:32043995..32044745hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38751
hg19751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746430, esv2746408
Supporting Variants
SamplesSSM080
Known GenesTINAGL1
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)essv6824996
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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