A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721160



Internal ID10304796
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:175212567..175244199hg38UCSC Ensembl
Outerchr2:176077295..176108927hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3831633
hg1931633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6910482, essv6785451, essv6700076, essv6739190, essv6968406, essv6853880, essv6929532, essv6813524, essv6847695, essv6821594, essv6938102, essv6829381, essv6880353, essv6821593, essv6922179, essv6955471, essv6920462, essv6917870, essv6840385, essv6973137, essv6689657, essv6766844, essv6693246, essv6730018, essv6859691
SamplesSSM036, SSM064, SSM079, SSM087, SSM039, SSM088, SSM028, SSM084, SSM047, SSM018, SSM069, SSM029, SSM026, SSM017, SSM003, SSM086, SSM081, SSM020, SSM015, SSM037, SSM077, SSM022, SSM052, SSM012
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)esv2721160
Frequency
Sample Size96
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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