A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718487



Internal ID9952778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:34688554..34748890hg38UCSC Ensembl
Outerchr19:35179459..35239795hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3860337
hg1960337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6689071, essv6888793, essv6921361, essv6921363, essv6901398, essv6699408, essv6766356, essv6797128
SamplesSSM100, SSM071, SSM038, SSM096, SSM017, SSM035, SSM063
Known GenesZNF181
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)esv2718487
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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