A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718190



Internal ID10301826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:12053805..12066776hg38UCSC Ensembl
Outerchr19:12164620..12177591hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg3812972
hg1912972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941402, essv6716710, essv6913642, essv6846696
SamplesSSM006, SSM085, SSM015, SSM022
Known GenesZNF844
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)esv2718190
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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