A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718881



Internal ID9953173
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54644625..54644964hg38UCSC Ensembl
Outerchr19:55156076..55156415hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6946194, essv6913733, essv6843604, essv6921434, essv6725561, essv6810182, essv6797172
SamplesSSM071, SSM075, SSM045, SSM023, SSM084, SSM017, SSM015
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)esv2718881
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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