A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717892



Internal ID9952183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:2432646..2433274hg38UCSC Ensembl
Outerchr19:2432644..2433272hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38629
hg19629
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852729, essv6753256, essv6971875, essv6792878, essv6898338, essv6666199, essv6846680, essv6780899, essv6710303, essv6960916, essv6666350, essv6682497, essv6824615, essv6967400, essv6877406
SamplesSSM008, SSM027, SSM079, SSM041, SSM057, SSM028, SSM092, SSM029, SSM026, SSM086, SSM033, SSM085, SSM070, SSM004, SSM099
Known GenesLMNB2
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)esv2717892
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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