A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2739707



Internal ID9974048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:94680312..94940071hg38UCSC Ensembl
Outerchr10:96440069..96699828hg19UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg38259760
hg19259760
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6731839, essv6912314, essv6735006, essv6819383, essv6944613, essv6746622, essv6863475, essv6970497, essv6769387, essv6976647, essv6728066, essv6819384, essv6919871, essv6845734, essv6896798, essv6752371, essv6969163, essv6845733, essv6806180, essv6684853, essv6976646, essv6787478, essv6904659, essv6763221, essv6783282, essv6720417, essv6832965, essv6908592, essv6760760, essv6769398, essv6958796, essv6704820, essv6743830, essv6702162, essv6765612, essv6803610
SamplesSSM010, SSM013, SSM053, SSM055, SSM061, SSM078, SSM057, SSM001, SSM039, SSM062, SSM012, SSM085, SSM017, SSM009, SSM011, SSM028, SSM029, SSM047, SSM069, SSM034, SSM063, SSM046, SSM023, SSM068, SSM044, SSM074, SSM004, SSM015, SSM026, SSM014, SSM049, SSM008
Known GenesCYP2C18, CYP2C19, CYP2C9
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)esv2739707
Frequency
Sample Size96
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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