A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721514



Internal ID9955810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:221523377..221523835hg38UCSC Ensembl
Outerchr2:222388097..222388555hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38459
hg19459
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6756852, essv6750947, essv6910516, essv6955542, essv6828486, essv6679619
SamplesSSM059, SSM002, SSM057, SSM026, SSM033, SSM015
Known GenesEPHA4
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)esv2721514
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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