A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851797



Internal ID9661988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:110595176..110595378hg38UCSC Ensembl
Outerchr4:111516332..111516534hg19UCSC Ensembl
Cytoband4q25
Allele length
AssemblyAllele length
hg38203
hg19203
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728138, esv2728143, esv2728144
Supporting Variants
SamplesSSM011
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)essv6851797
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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