A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727740



Internal ID10311376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247427548..247428047hg38UCSC Ensembl
Outerchr1:247590850..247591349hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38500
hg19500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6925879, essv6699840, essv6845743, essv6946697, essv6670988, essv6683013, essv6937888, essv6669301, essv6961886, essv6892518, essv6972741, essv6840166, essv6693013, essv6797685, essv6933533, essv6955096, essv6726061, essv6864218, essv6686333, essv6832781, essv6722206, essv6825207, essv6914160, essv6889206, essv6880585, essv6729831, essv6942026, essv6675413, essv6707457, essv6886148, essv6689456, essv6910272, essv6929290, essv6710785
SamplesSSM036, SSM027, SSM024, SSM045, SSM046, SSM011, SSM097, SSM039, SSM042, SSM041, SSM023, SSM084, SSM021, SSM047, SSM029, SSM096, SSM026, SSM089, SSM019, SSM035, SSM094, SSM032, SSM031, SSM072, SSM082, SSM020, SSM015, SSM016, SSM005, SSM080, SSM037, SSM022, SSM034, SSM098
Known GenesNLRP3
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)esv2727740
Frequency
Sample Size96
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer