A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718691



Internal ID9952983
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:48834428..48835649hg38UCSC Ensembl
Outerchr19:49337685..49338906hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381222
hg191222
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6841998, essv6913713, essv6764036, essv6961047, essv6888809, essv6750416, essv6773164, essv6828752, essv6756362, essv6738649, essv6828751, essv6699417, essv6717353, essv6801344, essv6744749, essv6898407, essv6932990, essv6784487, essv6746410, essv6917165, essv6703581, essv6946170, essv6971970, essv6832318, essv6766373, essv6895593, essv6868447, essv6682589, essv6925394, essv6852844, essv6721712, essv6753329, essv6954394, essv6741926, essv6820920, essv6776698, essv6967524, essv6781909
SamplesSSM010, SSM065, SSM007, SSM027, SSM053, SSM086, SSM006, SSM033, SSM099, SSM078, SSM089, SSM025, SSM072, SSM020, SSM016, SSM057, SSM001, SSM039, SSM050, SSM062, SSM056, SSM066, SSM028, SSM063, SSM038, SSM096, SSM023, SSM052, SSM044, SSM015, SSM026, SSM008, SSM098, SSM018, SSM058, SSM081, SSM080
Known GenesHSD17B14
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)esv2718691
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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