A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6961058



Internal ID10063294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:51353514..51353632hg38UCSC Ensembl
Outerchr19:51856768..51856886hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718774, esv2718771, esv2718772
Supporting Variants
SamplesSSM026
Known GenesETFB
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)essv6961058
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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