A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729346



Internal ID9793207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42918000..43186672hg38UCSC Ensembl
Outerchr19:43422152..43690824hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38268673
hg19268673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718594, esv2718601, esv2718599
Supporting Variants
SamplesSSM046
Known GenesPSG11, PSG2, PSG5, PSG7
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)essv6729346
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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