A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6836991



Internal ID10236961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:72400273..72400616hg38UCSC Ensembl
Outerchr4:73265990..73266333hg19UCSC Ensembl
Cytoband4q13.3
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727814
Supporting Variants
SamplesSSM083
Known GenesADAMTS3
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)essv6836991
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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