A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749239



Internal ID10330209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:104807654..104808381hg38UCSC Ensembl
Outerchr14:105273991..105274718hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv279e201
Supporting Variantsessv6740675, essv6945315, essv6857729, essv6920537, essv6673711, essv6744251, essv6876919, essv6709768, essv6909188, essv6900867, essv6857730, essv6732455, essv6709769, essv6688535, essv6940669, essv6842766, essv6688534, essv6941673, essv6932200, essv6912926, essv6966337, essv6941662, essv6772394
SamplesSSM100, SSM027, SSM065, SSM087, SSM041, SSM023, SSM092, SSM084, SSM047, SSM017, SSM035, SSM003, SSM031, SSM014, SSM020, SSM007, SSM015, SSM053, SSM022
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)esv2749239
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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