A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6809877



Internal ID9657468
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:1191391..1191732hg38UCSC Ensembl
Outerchr16:1241391..1241732hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38342
hg19342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750300, esv2750303, esv2750302
Supporting Variants
SamplesSSM009
Known GenesCACNA1H
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)essv6809877
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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