A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726224



Internal ID10309860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:174484079..174484446hg38UCSC Ensembl
Outerchr3:174201869..174202236hg19UCSC Ensembl
Cytoband3q26.31
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854244, essv6864778, essv6886463, essv6762234, essv6683392, essv6781559, essv6955878, essv6848097, essv6670035, essv6883734, essv6859997, essv6774043, essv6962605, essv6906807, essv6785708, essv6903121, essv6968649, essv6933984, essv6793990
SamplesSSM071, SSM027, SSM087, SSM013, SSM088, SSM028, SSM021, SSM069, SSM096, SSM062, SSM026, SSM089, SSM031, SSM014, SSM086, SSM066, SSM068, SSM095, SSM034
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)esv2726224
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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