A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6948052



Internal ID9642845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52637407..52734164hg38UCSC Ensembl
Outerchr19:53140660..53237417hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3896758
hg1996758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718787, esv2718794, esv2718786
Supporting Variants
SamplesSSM003
Known GenesZNF611, ZNF83
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)essv6948052
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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