A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717871



Internal ID9782879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43040042..43096236hg38UCSC Ensembl
Outerchr19:43544194..43600388hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3856195
hg1956195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718603, esv2718594, esv2718601, esv2718599
Supporting Variants
SamplesSSM043
Known GenesPSG2
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)essv6717871
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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