A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748992



Internal ID10329962
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88423494..88424309hg38UCSC Ensembl
Outerchr14:88889838..88890653hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6779754, essv6702768, essv6820072, essv6882565, essv6851698, essv6966301, essv6796333, essv6867540, essv6977800, essv6909170, essv6673675, essv6959808, essv6857699, essv6838905, essv6724781, essv6862757, essv6678128, essv6868553, essv6688525, essv6695891, essv6949401
SamplesSSM083, SSM071, SSM027, SSM024, SSM045, SSM011, SSM087, SSM039, SSM088, SSM029, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM014, SSM086, SSM078, SSM037
Known GenesSPATA7
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)esv2748992
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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