A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814031



Internal ID10005015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12397149..12437123hg38UCSC Ensembl
Outerchr19:12507963..12547937hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3839975
hg1939975
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718194, esv2718192
Supporting Variants
SamplesSSM009
Known GenesZNF443, ZNF799
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)essv6814031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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