A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6814410



Internal ID10005095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30131077..30131281hg38UCSC Ensembl
Outerchr19:30621984..30622188hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38205
hg19205
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718435, esv2718433
Supporting Variants
SamplesSSM009
Known Genes
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)essv6814410
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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