A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2730903

Internal ID9965220
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149197551..149198259hg38UCSC Ensembl
Outerchr5:148577114..148577822hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759065, essv6727309, essv6723087, essv6730739, essv6694003, essv6914955, essv6786238, essv6837285, essv6790360, essv6903598, essv6708285, essv6704862, essv6963470, essv6926652, essv6938846, essv6802450, essv6830038, essv6841095, essv6670907, essv6886831, essv6911168, essv6930308, essv6875566, essv6893362, essv6886898, essv6922910, essv6715363, essv6848886, essv6726990, essv6872610, essv6690289, essv6770639, essv6676406, essv6959340, essv6774477, essv6782042, essv6896652, essv6860633, essv6869576, essv6700889, essv6711700
SamplesSSM065, SSM022, SSM007, SSM027, SSM092, SSM013, SSM086, SSM036, SSM091, SSM084, SSM099, SSM042, SSM040, SSM043, SSM088, SSM090, SSM031, SSM020, SSM016, SSM032, SSM039, SSM045, SSM083, SSM041, SSM012, SSM066, SSM047, SSM073, SSM069, SSM037, SSM046, SSM019, SSM096, SSM068, SSM004, SSM015, SSM008, SSM098, SSM018, SSM081, SSM070
Known GenesABLIM3
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2730903
Sample Size96
Observed Gain0
Observed Loss41
Observed Complex0

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