A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6902246



Internal ID9664863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:30500356..30500831hg38UCSC Ensembl
Outerchr19:30991263..30991738hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg38476
hg19476
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718444
Supporting Variants
SamplesSSM012
Known GenesZNF536
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)essv6902246
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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