A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732890



Internal ID10316526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:151090857..151091024hg38UCSC Ensembl
Outerchr6:151411993..151412160hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg38168
hg19168
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872863
SamplesSSM091
Known GenesMTHFD1L
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)esv2732890
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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