A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6745472



Internal ID9809480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2398696..2398890hg38UCSC Ensembl
Outerchr4:2400423..2400617hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38195
hg19195
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726845, esv2726835
Supporting Variants
SamplesSSM055
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)essv6745472
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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