A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721082



Internal ID9955378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:166200983..166202000hg38UCSC Ensembl
Outerchr2:167057493..167058510hg19UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg381018
hg191018
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6733764, essv6721966, essv6859680, essv6748101, essv6759360, essv6817071, essv6819675, essv6817486, essv6875029, essv6742462, essv6753828, essv6880287, essv6698342, essv6962218, essv6736300, essv6750916, essv6762089, essv6756831, essv6973120, essv6745244, essv6669647, essv6739182
SamplesSSM010, SSM007, SSM027, SSM092, SSM053, SSM006, SSM055, SSM061, SSM078, SSM088, SSM031, SSM057, SSM001, SSM050, SSM062, SSM012, SSM056, SSM029, SSM052, SSM049, SSM058, SSM059
Known GenesSCN9A
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)esv2721082
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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