A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6973823



Internal ID9731030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:47485160..47486240hg38UCSC Ensembl
Outerchr4:47487177..47488257hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg381081
hg191081
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727527
Supporting Variants
SamplesSSM029
Known GenesATP10D
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)essv6973823
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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