A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721568



Internal ID9955864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:228092075..228093136hg38UCSC Ensembl
Outerchr2:228956791..228957852hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg381062
hg191062
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962311, essv6910522, essv6973223, essv6762117, essv6922231, essv6917910, essv6869072, essv6920773, essv6875068, essv6759399, essv6773873, essv6853950, essv6753871, essv6968447, essv6739235, essv6700127, essv6750953, essv6938139, essv6689686, essv6848087, essv6817143, essv6933792
SamplesSSM022, SSM027, SSM092, SSM036, SSM061, SSM078, SSM090, SSM057, SSM039, SSM062, SSM017, SSM011, SSM066, SSM028, SSM029, SSM003, SSM021, SSM087, SSM052, SSM015, SSM018, SSM058
Known GenesSPHKAP
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)esv2721568
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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