A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721394



Internal ID10305030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:206373943..206376030hg38UCSC Ensembl
Outerchr2:207238667..207240754hg19UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg382088
hg192088
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962280, essv6686529, essv6669705, essv6788266, essv6933779, essv6859731, essv6847736, essv6864518, essv6766855, essv6764465, essv6906580, essv6733784, essv6847737, essv6817122, essv6864517, essv6955520, essv6951008, essv6669706, essv6962281, essv6859733, essv6955519, essv6819920, essv6853922, essv6853921, essv6973183, essv6825474, essv6906581
SamplesSSM027, SSM064, SSM087, SSM009, SSM088, SSM021, SSM029, SSM026, SSM089, SSM035, SSM031, SSM014, SSM086, SSM078, SSM080, SSM010, SSM025, SSM049, SSM063
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)esv2721394
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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