A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727098



Internal ID9961406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:7994078..7995159hg38UCSC Ensembl
Outerchr4:7995805..7996886hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg381082
hg191082
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817462, essv6840702, essv6922529, essv6906872, essv6767083, essv6844482, essv6748323, essv6962759, essv6785805, essv6790665, essv6802158, essv6854369, essv6892971, essv6742680, essv6689916, essv6751163, essv6700243, essv6794080, essv6942685, essv6934100, essv6745485, essv6774128, essv6889644, essv6718839, essv6674443, essv6730340, essv6836885, essv6869267, essv6850287, essv6878184, essv6722717, essv6683451, essv6923063, essv6679891, essv6700428, essv6804992, essv6704491, essv6903200, essv6926322, essv6759595, essv6675928, essv6821944, essv6789922, essv6770275, essv6813819, essv6896359, essv6929877, essv6755266, essv6733972, essv6938425
SamplesSSM036, SSM008, SSM083, SSM071, SSM027, SSM045, SSM011, SSM064, SSM065, SSM087, SSM097, SSM039, SSM013, SSM009, SSM073, SSM093, SSM074, SSM057, SSM023, SSM084, SSM090, SSM021, SSM047, SSM018, SSM069, SSM061, SSM019, SSM032, SSM003, SSM044, SSM014, SSM033, SSM066, SSM006, SSM085, SSM040, SSM020, SSM078, SSM053, SSM005, SSM077, SSM022, SSM010, SSM055, SSM070, SSM034, SSM099, SSM098, SSM049, SSM056
Known GenesABLIM2
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)esv2727098
Frequency
Sample Size96
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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