A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6883094



Internal ID9931580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:53113283..53113571hg38UCSC Ensembl
Outerchr19:53616536..53616824hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38289
hg19289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718811, esv2718787, esv2718810
Supporting Variants
SamplesSSM094
Known GenesZNF415
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)essv6883094
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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