A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739120



Internal ID3289616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:131515751..131516239hg38UCSC Ensembl
Outerchr9:134391138..134391626hg19UCSC Ensembl
Cytoband9q34.13
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795606, essv6787328, essv6799789, essv6702013, essv6672481, essv6952789, essv6866613, essv6823230, essv6965097, essv6731701, essv6791420, essv6915780, essv6838232, essv6720302, essv6958531, essv6965098, essv6908457, essv6677415, essv6779050, essv6834530
SamplesSSM027, SSM082, SSM089, SSM031, SSM025, SSM072, SSM071, SSM016, SSM032, SSM039, SSM067, SSM083, SSM047, SSM069, SSM079, SSM044, SSM026, SSM014, SSM070
Known GenesPOMT1
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)esv2739120
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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