A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718188



Internal ID9952479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:11928517..11935111hg38UCSC Ensembl
Outerchr19:12039332..12045926hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386595
hg196595
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6738595, essv6758849, essv6753271
SamplesSSM057, SSM050, SSM059
Known GenesZNF700
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)esv2718188
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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