A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858683



Internal ID10256299
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3649718..3649793hg38UCSC Ensembl
Outerchr19:3649716..3649791hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717964, esv2717965, esv2717963, esv2717966
Supporting Variants
SamplesSSM087
Known GenesPIP5K1C
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)essv6858683
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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