A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6780475



Internal ID10185909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12388635..12428113hg38UCSC Ensembl
Outerchr19:12499449..12538927hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3839479
hg1939479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718194, esv2718192
Supporting Variants
SamplesSSM067
Known GenesZNF799
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)essv6780475
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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