A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730623



Internal ID10314259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:115633701..115634113hg38UCSC Ensembl
Outerchr5:114969398..114969810hg19UCSC Ensembl
Cytoband5q22.3
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6869555, essv6911138, essv6693973, essv6719248, essv6676372, essv6833620, essv6822287, essv6778004, essv6951700, essv6690264, essv6715336, essv6814162, essv6808258, essv6708252, essv6811156, essv6798659, essv6726961, essv6854949, essv6848833, essv6830005, essv6786210, essv6872573, essv6969179, essv6907332, essv6770612, essv6687100, essv6805267, essv6730702, essv6926496, essv6963412, essv6683851, essv6704841, essv6884060, essv6802425, essv6723058
SamplesSSM036, SSM027, SSM075, SSM045, SSM046, SSM079, SSM065, SSM087, SSM073, SSM074, SSM041, SSM028, SSM090, SSM047, SSM069, SSM035, SSM032, SSM003, SSM067, SSM044, SSM014, SSM086, SSM081, SSM040, SSM072, SSM082, SSM015, SSM037, SSM077, SSM076, SSM091, SSM095, SSM025, SSM034, SSM043
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)esv2730623
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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