A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730709



Internal ID9965026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:122938650..122938987hg38UCSC Ensembl
Outerchr5:122274345..122274682hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670874, essv6907350, essv6826217, essv6794486, essv6837263, essv6808268, essv6802435, essv6848849, essv6903576, essv6817993, essv6683859, essv6786219, essv6830019, essv6956710, essv6790338, essv6798668, essv6814171, essv6860610, essv6893345, essv6854967, essv6930287, essv6890051, essv6811165, essv6854042, essv6708267, essv6886879, essv6822296, essv6726970, essv6899557, essv6943175, essv6865383, essv6963430, essv6700868, essv6676390, essv6974470
SamplesSSM027, SSM013, SSM086, SSM078, SSM088, SSM089, SSM031, SSM072, SSM020, SSM071, SSM032, SSM039, SSM083, SSM097, SSM041, SSM077, SSM100, SSM011, SSM029, SSM073, SSM069, SSM034, SSM087, SSM046, SSM096, SSM023, SSM079, SSM075, SSM026, SSM014, SSM098, SSM076, SSM081, SSM070, SSM080
Known GenesSNX24
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)esv2730709
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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