A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717904



Internal ID10301540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2674058..2674284hg38UCSC Ensembl
Outerchr19:2674056..2674282hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38227
hg19227
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6776624, essv6756288
SamplesSSM058, SSM066
Known GenesGNG7
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)esv2717904
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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