A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718575



Internal ID10302211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:41465400..41519133hg38UCSC Ensembl
Outerchr19:41971305..42025494hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3853734
hg1954190
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895584, essv6746320, essv6828739, essv6694210, essv6868430, essv6874459, essv6898396, essv6797138
SamplesSSM071, SSM089, SSM007, SSM005, SSM080, SSM091, SSM099, SSM098
Known GenesLOC100505495
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)esv2718575
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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