A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6692415



Internal ID9759031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6266537..6267290hg38UCSC Ensembl
Outerchr19:6266548..6267301hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38754
hg19754
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718064
Supporting Variants
SamplesSSM036
Known GenesMLLT1
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)essv6692415
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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