A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852807



Internal ID10251009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33757457..33757517hg38UCSC Ensembl
Outerchr19:34248362..34248422hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718479, esv2718478
Supporting Variants
SamplesSSM086
Known GenesCHST8
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)essv6852807
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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