A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2727098

Internal ID9961406
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7994078..7995159hg38UCSC Ensembl
Outerchr4:7995805..7996886hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6789922, essv6730340, essv6844482, essv6675928, essv6733972, essv6748323, essv6804992, essv6774128, essv6785805, essv6718839, essv6889644, essv6821944, essv6751163, essv6892971, essv6689916, essv6722717, essv6962759, essv6745485, essv6813819, essv6929877, essv6683451, essv6934100, essv6878184, essv6926322, essv6850287, essv6700243, essv6802158, essv6903200, essv6759595, essv6679891, essv6700428, essv6704491, essv6817462, essv6790665, essv6923063, essv6840702, essv6674443, essv6836885, essv6742680, essv6755266, essv6854369, essv6896359, essv6906872, essv6770275, essv6942685, essv6794080, essv6922529, essv6938425, essv6869267, essv6767083
SamplesSSM010, SSM065, SSM022, SSM027, SSM013, SSM053, SSM006, SSM036, SSM055, SSM033, SSM084, SSM061, SSM099, SSM040, SSM078, SSM090, SSM064, SSM020, SSM071, SSM057, SSM032, SSM039, SSM045, SSM083, SSM097, SSM077, SSM005, SSM093, SSM056, SSM085, SSM009, SSM011, SSM066, SSM003, SSM047, SSM073, SSM069, SSM021, SSM034, SSM087, SSM019, SSM023, SSM044, SSM074, SSM014, SSM049, SSM008, SSM098, SSM018, SSM070
Known GenesABLIM2
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Pubmed ID23290073
Accession Number(s)esv2727098
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0

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