A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747956



Internal ID9982240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:106569845..106571093hg38UCSC Ensembl
Outerchr13:107222193..107223441hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg381249
hg191249
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6807621, essv6741268, essv6894841, essv6920417, essv6758368, essv6846107, essv6712388, essv6806541, essv6747002, essv6685272, essv6688450, essv6691781, essv6792052, essv6724688, essv6953444, essv6739998, essv6879632, essv6901210, essv6888153, essv6728522, essv6702668, essv6928090, essv6873832, essv6924545, essv6720890, essv6851543, essv6783766, essv6678025, essv6876826, essv6744175, essv6717002, essv6809556, essv6779649, essv6959619
SamplesSSM059, SSM036, SSM075, SSM045, SSM046, SSM039, SSM009, SSM093, SSM074, SSM092, SSM018, SSM096, SSM026, SSM017, SSM019, SSM035, SSM032, SSM067, SSM044, SSM086, SSM006, SSM085, SSM068, SSM007, SSM053, SSM091, SSM055, SSM070, SSM025, SSM034, SSM043, SSM052, SSM098, SSM012
Known Genes
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)esv2747956
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