A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718452



Internal ID10302088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:31242186..31243297hg38UCSC Ensembl
Outerchr19:31733092..31734203hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg381112
hg191112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6941438, essv6769275, essv6756337, essv6782487, essv6666822, essv6699407, essv6812959, essv6954366, essv6914719, essv6781576, essv6913686, essv6898381, essv6880229, essv6682559, essv6925360, essv6741901
SamplesSSM008, SSM064, SSM038, SSM093, SSM002, SSM058, SSM018, SSM001, SSM033, SSM015, SSM076, SSM022, SSM025, SSM004, SSM099, SSM052
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)esv2718452
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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