A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6956067



Internal ID10064831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:27542247..27542330hg38UCSC Ensembl
Outerchr4:27543869..27543952hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg3884
hg1984
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727316, esv2727319, esv2727317, esv2727315
Supporting Variants
SamplesSSM026
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)essv6956067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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