A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756283



Internal ID10163307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:1950279..1951948hg38UCSC Ensembl
Outerchr19:1950278..1951947hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg381670
hg191670
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717856
Supporting Variants
SamplesSSM058
Known GenesCSNK1G2
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)essv6756283
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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