A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730315



Internal ID10313951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:75786448..75786787hg38UCSC Ensembl
Outerchr5:75082273..75082612hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38340
hg19340
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848773, essv6826160, essv6833594, essv6963357, essv6947602, essv6676711, essv6837228, essv6872551, essv6683814, essv6958862, essv6907287, essv6903538, essv6811124, essv6687064, essv6777971, essv6719211, essv6886833, essv6697771, essv6974382, essv6956641, essv6794441, essv6860543, essv6822250, essv6817924, essv6884028, essv6881239, essv6889997, essv6853586
SamplesSSM083, SSM071, SSM027, SSM024, SSM011, SSM079, SSM038, SSM097, SSM013, SSM088, SSM029, SSM096, SSM026, SSM035, SSM094, SSM067, SSM044, SSM014, SSM086, SSM082, SSM078, SSM005, SSM080, SSM076, SSM091, SSM095, SSM034, SSM004
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)esv2730315
Frequency
Sample Size96
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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