A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858817



Internal ID10256420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:52494100..52537391hg38UCSC Ensembl
Outerchr19:52997353..53040644hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg3843292
hg1943292
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718785
Supporting Variants
SamplesSSM087
Known GenesZNF578, ZNF808
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)essv6858817
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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