A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730504



Internal ID10314140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:99009312..99011793hg38UCSC Ensembl
Outerchr5:98345016..98347497hg19UCSC Ensembl
Cytoband5q21.1
Allele length
AssemblyAllele length
hg382482
hg192482
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6802412, essv6764862, essv6870708, essv6918555, essv6676855, essv6726941, essv6963389, essv6886855, essv6824399, essv6872566, essv6951685, essv6969167, essv6911123, essv6841048, essv6734220, essv6926626, essv6947619, essv6759861, essv6742970, essv6814149, essv6896616, essv6715325, essv6711659, essv6943148, essv6745784, essv6704830, essv6754347, essv6693959, essv6959017, essv6934492, essv6697788, essv6702321, essv6786196, essv6937817, essv6854929, essv6667435, essv6829991, essv6875528, essv6751424, essv6793232, essv6726987, essv6736811, essv6817961, essv6748577, essv6739797, essv6730694, essv6690253, essv6762490, essv6974430, essv6758676
SamplesSSM036, SSM008, SSM027, SSM024, SSM046, SSM087, SSM038, SSM009, SSM073, SSM050, SSM042, SSM002, SSM057, SSM023, SSM058, SSM028, SSM092, SSM084, SSM021, SSM047, SSM069, SSM061, SSM029, SSM096, SSM062, SSM017, SSM019, SSM001, SSM006, SSM081, SSM040, SSM007, SSM015, SSM078, SSM053, SSM005, SSM037, SSM077, SSM010, SSM091, SSM055, SSM025, SSM004, SSM099, SSM043, SSM052, SSM049, SSM056, SSM030, SSM063
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)esv2730504
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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