A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726178



Internal ID10309814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:169020642..169021054hg38UCSC Ensembl
Outerchr3:168738430..168738842hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686682, essv6821343, essv6785704, essv6908151, essv6848088, essv6892889, essv6781556, essv6700351, essv6789818, essv6813737, essv6951240, essv6802092, essv6889581, essv6707833, essv6906800, essv6903117, essv6711223, essv6962598, essv6914515, essv6767003, essv6859991, essv6922431, essv6714881, essv6942566, essv6938328, essv6833178, essv6926235, essv6774039, essv6697462, essv6947147, essv6864771, essv6886460, essv6836778, essv6689841, essv6793986, essv6683389, essv6896300
SamplesSSM036, SSM083, SSM071, SSM027, SSM024, SSM064, SSM038, SSM097, SSM039, SSM013, SSM073, SSM042, SSM088, SSM041, SSM023, SSM018, SSM069, SSM096, SSM089, SSM019, SSM035, SSM001, SSM014, SSM086, SSM066, SSM068, SSM082, SSM016, SSM077, SSM022, SSM010, SSM070, SSM025, SSM034, SSM099, SSM043, SSM098
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)esv2726178
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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