A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6725534



Internal ID9789775
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43037703..43280843hg38UCSC Ensembl
Outerchr19:43541855..43784995hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38243141
hg19243141
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718603, esv2718594, esv2718601, esv2718599
Supporting Variants
SamplesSSM045
Known GenesLOC284344, PSG2, PSG4, PSG5, PSG9
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)essv6725534
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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