A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6693570



Internal ID9762561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2398718..2398864hg38UCSC Ensembl
Outerchr4:2400445..2400591hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38147
hg19147
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726845, esv2726835
Supporting Variants
SamplesSSM037
Known GenesZFYVE28
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)essv6693570
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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