A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730266



Internal ID10313902
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:63408600..63408944hg38UCSC Ensembl
Outerchr5:62704427..62704771hg19UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781992, essv6786170, essv6719202, essv6774422, essv6854893, essv6811119, essv6899511, essv6878438, essv6930244, essv6848767, essv6790296, essv6947597, essv6974371, essv6802395, essv6708212, essv6963348, essv6853542, essv6943114, essv6893286, essv6693927, essv6860537, essv6726914, essv6687059, essv6817916, essv6808224, essv6837223, essv6676325, essv6956634, essv6886829, essv6869524, essv6881237, essv6865324, essv6829970, essv6889992, essv6826155, essv6896594, essv6794434, essv6969142, essv6805235, essv6715311, essv6670778, essv6777965, essv6907279
SamplesSSM100, SSM083, SSM071, SSM027, SSM024, SSM075, SSM046, SSM011, SSM087, SSM097, SSM073, SSM093, SSM074, SSM088, SSM041, SSM023, SSM028, SSM090, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM032, SSM031, SSM067, SSM044, SSM014, SSM086, SSM066, SSM068, SSM081, SSM020, SSM078, SSM080, SSM037, SSM076, SSM070, SSM099, SSM043, SSM098
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)esv2730266
Frequency
Sample Size96
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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