A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721352



Internal ID9955648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:199447384..199448200hg38UCSC Ensembl
Outerchr2:200312107..200312923hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38817
hg19817
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669694, essv6906574, essv6834153, essv6962271, essv6817116, essv6785470, essv6847865, essv6847727, essv6880741, essv6859724
SamplesSSM027, SSM011, SSM088, SSM069, SSM094, SSM031, SSM001, SSM014, SSM086, SSM078
Known GenesSATB2
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)esv2721352
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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