A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925338



Internal ID10033412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:15673948..15674476hg38UCSC Ensembl
Outerchr19:15784758..15785286hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg38529
hg19529
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718235, esv2718238
Supporting Variants
SamplesSSM018
Known GenesCYP4F12
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)essv6925338
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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