A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732400



Internal ID10316036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:88714382..88714688hg38UCSC Ensembl
Outerchr6:89424101..89424407hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38307
hg19307
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6762684
SamplesSSM062
Known GenesRNGTT
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)esv2732400
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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