A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6807975



Internal ID10212252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:16323487..16323655hg38UCSC Ensembl
Outerchr4:16325110..16325278hg19UCSC Ensembl
Cytoband4p15.32
Allele length
AssemblyAllele length
hg38169
hg19169
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727225, esv2727224
Supporting Variants
SamplesSSM075
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)essv6807975
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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