A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748582



Internal ID10329552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34044716..34045619hg38UCSC Ensembl
Outerchr14:34513922..34514825hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38904
hg19904
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6870918, essv6720960, essv6761149, essv6912866, essv6842712, essv6851628, essv6717067, essv6806580, essv6792126, essv6768706, essv6709719, essv6775951, essv6772334, essv6724747, essv6774542, essv6815682, essv6909126, essv6695842, essv6920479, essv6910296, essv6823902, essv6758408, essv6673602, essv6945247, essv6901569, essv6836654, essv6812412
SamplesSSM059, SSM008, SSM045, SSM064, SSM079, SSM065, SSM074, SSM002, SSM041, SSM023, SSM084, SSM090, SSM061, SSM017, SSM031, SSM044, SSM014, SSM086, SSM066, SSM015, SSM037, SSM077, SSM076, SSM010, SSM070, SSM043, 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)esv2748582
Frequency
Sample Size96
Observed Gain0
Observed Loss27
Observed Complex0
Frequencyn/a


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