A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716791



Internal ID9951080
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:10756964..10757759hg38UCSC Ensembl
Outerchr18:10756962..10757757hg19UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38796
hg19796
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6713688, essv6916858, essv6971653, essv6801060, essv6703261, essv6852408, essv6710134, essv6738422, essv6945329, essv6902011, essv6741705, essv6665997, essv6925095, essv6780234, essv6880036, essv6977450, essv6788570, essv6937015, essv6843262, essv6839400, essv6898193, essv6913394, essv6816114, essv6840043, essv6812210, essv6921042, essv6796847, essv6877252, essv6858379, essv6905633, essv6717606, essv6945837, essv6835618, essv6846526, essv6792663, essv6885587, essv6954077, essv6699250, essv6806949, essv6696393, essv6744177, essv6772859, essv6776440, essv6895337, essv6832051, essv6725269, essv6769094, essv6744540, essv6682314, essv6941185, essv6756122, essv6967056, essv6784391, essv6761501, essv6753105, essv6949909, essv6732933, essv6960592, essv6928583
SamplesSSM083, SSM071, SSM027, SSM024, SSM045, SSM064, SSM065, SSM087, SSM038, SSM039, SSM013, SSM009, SSM093, SSM050, SSM074, SSM042, SSM041, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM018, SSM069, SSM061, SSM029, SSM026, SSM017, SSM019, SSM003, SSM067, SSM086, SSM033, SSM066, SSM085, SSM068, SSM081, SSM072, SSM082, SSM007, SSM015, SSM016, SSM053, SSM037, SSM077, SSM022, SSM010, SSM070, SSM095, SSM025, SSM004, SSM099, SSM043, SSM052, SSM098, SSM012
Known GenesPIEZO2
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)esv2716791
Frequency
Sample Size96
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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