A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814832



Internal ID9658492
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52818743..52855082hg38UCSC Ensembl
Outerchr19:53321996..53358335hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3836340
hg1936340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718787, esv2718796, esv2718800, esv2718802, esv2718799
Supporting Variants
SamplesSSM009
Known GenesZNF28, ZNF468
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)essv6814832
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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