A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718955



Internal ID10302591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:55147237..55147469hg38UCSC Ensembl
Outerchr19:55658605..55658837hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38233
hg19233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6933036, essv6843626, essv6674878, essv6863685, essv6917201, essv6868485, essv6741958, essv6858847, essv6961096, essv6667410, essv6895627, essv6941499, essv6898436, essv6832350, essv6901437, essv6874516
SamplesSSM100, SSM087, SSM088, SSM084, SSM026, SSM089, SSM031, SSM081, SSM020, SSM016, SSM022, SSM091, SSM004, SSM099, SSM052, SSM098
Known GenesTNNT1
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)esv2718955
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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