A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718467



Internal ID9952758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33081866..33082127hg38UCSC Ensembl
Outerchr19:33572772..33573033hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38262
hg19262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689069, essv6824664, essv6807155, essv6820895, essv6685927, essv6901396, essv6895573, essv6863616
SamplesSSM100, SSM079, SSM074, SSM088, SSM035, SSM078, SSM034, SSM098
Known GenesGPATCH1
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)esv2718467
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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