A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731222



Internal ID10314858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:178301425..178302553hg38UCSC Ensembl
Outerchr5:177728426..177729554hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381129
hg191129
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6690308, essv6938870, essv6841129, essv6969241, essv6907408, essv6764912, essv6881312, essv6934572, essv6715387, essv6956801, essv6808296, essv6914976, essv6757305, essv6759919, essv6974573, essv6778062, essv6730762, essv6903614, essv6700928, essv6702787, essv6793854, essv6739868
SamplesSSM059, SSM036, SSM075, SSM039, SSM013, SSM009, SSM028, SSM084, SSM021, SSM047, SSM061, SSM029, SSM026, SSM094, SSM067, SSM014, SSM006, SSM016, SSM022, SSM043, SSM052, SSM063
Known GenesCOL23A1
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)esv2731222
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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