A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717790



Internal ID10301426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:815136..815694hg38UCSC Ensembl
Outerchr19:815136..815694hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38559
hg19559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954294, essv6713890, essv6905788, essv6824608, essv6839604, essv6733113, essv6832239, essv6678817, essv6810103, essv6807110
SamplesSSM083, SSM075, SSM079, SSM013, SSM074, SSM042, SSM047, SSM032, SSM081, SSM025
Known GenesLPPR3
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)esv2717790
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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