A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750416



Internal ID9811198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48834490..48835536hg38UCSC Ensembl
Outerchr19:49337747..49338793hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381047
hg191047
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718691
Supporting Variants
SamplesSSM056
Known GenesHSD17B14
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)essv6750416
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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