A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730625



Internal ID10314261
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115842079..115870022hg38UCSC Ensembl
Outerchr5:115177776..115205719hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg3827944
hg1927944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6693972, essv6814164, essv6702443, essv6938815, essv6860593, essv6742989, essv6938817, essv6963408, essv6745795, essv6848836, essv6730699, essv6764870, essv6830006, essv6778003, essv6736824, essv6930275, essv6798656, essv6844753, essv6947631, essv6697796, essv6793321
SamplesSSM027, SSM024, SSM038, SSM009, SSM050, SSM088, SSM047, SSM067, SSM001, SSM086, SSM006, SSM085, SSM081, SSM072, SSM020, SSM053, SSM037, SSM077, SSM022, SSM055, SSM063
Known GenesAP3S1
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)esv2730625
Frequency
Sample Size96
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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