A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721521



Internal ID10305157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:222932584..222932975hg38UCSC Ensembl
Outerchr2:223797302..223797693hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736339, essv6892728, essv6973215
SamplesSSM050, SSM029, SSM098
Known GenesACSL3
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)esv2721521
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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