A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748992



Internal ID5059724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:88889838..88890653hg19UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6966301, essv6977800, essv6678128, essv6838905, essv6688525, essv6949401, essv6862757, essv6867540, essv6695891, essv6857699, essv6820072, essv6673675, essv6796333, essv6959808, essv6909170, essv6851698, essv6702768, essv6882565, essv6724781, essv6868553, essv6779754
SamplesSSM027, SSM086, SSM078, SSM088, SSM089, SSM031, SSM035, SSM071, SSM032, SSM039, SSM024, SSM045, SSM067, SSM094, SSM083, SSM011, SSM029, SSM037, SSM087, SSM026, SSM014
Known GenesSPATA7
Method
Analysis
PlatformIllumina HiSeq2000
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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