A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739118



Internal ID5049850
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:134390753..134392180hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv6795606, essv6731702, essv6787328, essv6799789, essv6702013, essv6724095, essv6958532, essv6672481, essv6952789, essv6866613, essv6823230, essv6965097, essv6731701, essv6976349, essv6791420, essv6915780, essv6838232, essv6720302, essv6958531, essv6965098, essv6908457, essv6681204, essv6677415, essv6779050, essv6834530
SamplesSSM027, SSM082, SSM033, SSM089, SSM031, SSM025, SSM072, SSM071, SSM016, SSM032, SSM039, SSM045, SSM067, SSM083, SSM029, SSM047, SSM069, SSM079, SSM044, SSM026, SSM014, SSM070
Known GenesPOMT1
Method
Analysis
PlatformIllumina HiSeq2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2739118
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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