A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2725273



Internal ID10308909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:52444342..52445025hg38UCSC Ensembl
Outerchr3:52478358..52479041hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38684
hg19684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6785600, essv6807818, essv6918001, essv6962453, essv6722537, essv6929669, essv6892808, essv6973415, essv6847915, essv6883652, essv6933893, essv6848721, essv6770091, essv6968557, essv6914444, essv6859870, essv6777475, essv6829513, essv6955720, essv6793871, essv6922324
SamplesSSM071, SSM027, SSM075, SSM045, SSM011, SSM065, SSM088, SSM028, SSM021, SSM018, SSM069, SSM029, SSM026, SSM017, SSM067, SSM086, SSM081, SSM020, SSM016, SSM095, SSM098
Known GenesSEMA3G
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)esv2725273
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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