A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717979



Internal ID9952270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:4005406..4159344hg38UCSC Ensembl
Outerchr19:4005404..4159341hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38153939
hg19153938
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6960932, essv6666366, essv6713906, essv6703494, essv6946078, essv6950135, essv6852743, essv6773082, essv6967415, essv6839615, essv6674740, essv6950136, essv6733128, essv6824619, essv6710306, essv6788781, essv6776629, essv6788780, essv6909746, essv6946079, essv6874400, essv6733129, essv6913624, essv6858688, essv6971882, essv6885737, essv6828689, essv6852741, essv6937272, essv6682503, essv6666367, essv6692408
SamplesSSM065, SSM027, SSM086, SSM036, SSM091, SSM033, SSM042, SSM031, SSM039, SSM024, SSM083, SSM041, SSM066, SSM028, SSM029, SSM095, SSM047, SSM069, SSM021, SSM087, SSM023, SSM079, SSM015, SSM026, SSM014, SSM080
Known GenesCREB3L3, MAP2K2, PIAS4, ZBTB7A
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)esv2717979
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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