A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730066



Internal ID10313702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:35614048..35614392hg38UCSC Ensembl
Outerchr5:35614150..35614494hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6683782, essv6951647, essv6700784, essv6884006, essv6708193, essv6837207, essv6947577, essv6798595, essv6790281, essv6974333, essv6833575, essv6907256, essv6822230, essv6826139, essv6853342, essv6956610, essv6854863, essv6726897, essv6814115, essv6690220, essv6889975, essv6896584, essv6860511, essv6878424, essv6786155, essv6848738, essv6719189, essv6777940, essv6943093, essv6865298
SamplesSSM036, SSM083, SSM024, SSM046, SSM011, SSM079, SSM087, SSM097, SSM039, SSM093, SSM088, SSM041, SSM023, SSM069, SSM029, SSM026, SSM089, SSM067, SSM044, SSM014, SSM086, SSM072, SSM082, SSM080, SSM077, SSM070, SSM095, SSM025, SSM034, SSM099
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)esv2730066
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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