A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718064



Internal ID9952355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:6266533..6267290hg38UCSC Ensembl
Outerchr19:6266544..6267301hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38758
hg19758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6871450, essv6692415, essv6921301
SamplesSSM036, SSM090, SSM017
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)esv2718064
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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