A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718356



Internal ID9952647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:22471704..22472490hg38UCSC Ensembl
Outerchr19:22654506..22655292hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38787
hg19787
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6682542, essv6868399, essv6764007, essv6674782, essv6868397, essv6947607
SamplesSSM062, SSM089, SSM003, SSM031, SSM033
Known Genes
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)esv2718356
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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