A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730894



Internal ID5041626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147462131..147462499hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6805290, essv6826237, essv6848884, essv6914953, essv6814187, essv6822311, essv6677232, essv6818013, essv6790359, essv6963466, essv6811182, essv6896651, essv6865402, essv6786236, essv6878495, essv6881293, essv6770638, essv6676404, essv6890067, essv6854995, essv6670904, essv6680257, essv6837283, essv6700886, essv6833639, essv6683878, essv6956743, essv6794504, essv6943198, essv6854266, essv6947667, essv6860630, essv6974509, essv6930304, essv6886895, essv6969206
SamplesSSM065, SSM027, SSM082, SSM086, SSM033, SSM099, SSM078, SSM088, SSM089, SSM031, SSM020, SSM071, SSM016, SSM032, SSM039, SSM024, SSM094, SSM083, SSM097, SSM077, SSM005, SSM093, SSM011, SSM028, SSM029, SSM069, SSM034, SSM087, SSM096, SSM023, SSM079, SSM074, SSM026, SSM076, SSM070, SSM080
Known GenesSPINK5
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2730894
Frequency
Sample Size96
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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