A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718341



Internal ID9952632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21584142..21584611hg38UCSC Ensembl
Outerchr19:21766944..21767413hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38470
hg19470
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6846716, essv6761655, essv6950173, essv6666432, essv6954346, essv6750377, essv6841553, essv6741884, essv6753290, essv6947573, essv6913665
SamplesSSM024, SSM057, SSM061, SSM029, SSM003, SSM085, SSM015, SSM010, SSM025, SSM052, SSM056
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)esv2718341
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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