A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734232



Internal ID9968559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33363880..33364247hg38UCSC Ensembl
Outerchr7:33403492..33403859hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38368
hg19368
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6865852, essv6893731, essv6964118, essv6907803, essv6861137, essv6826640, essv6975210, essv6698069, essv6671467, essv6771060, essv6808602, essv6881593, essv6849481, essv6684202, essv6799107, essv6856865, essv6890392, essv6712065, essv6794901, essv6811484, essv6680614, essv6887184, essv6786651, essv6705198, essv6680499, essv6899873, essv6814541, essv6687439, essv6923292, essv6869950, essv6805629, essv6957419, essv6782456
SamplesSSM100, SSM071, SSM027, SSM075, SSM011, SSM065, SSM038, SSM097, SSM074, SSM042, SSM088, SSM090, SSM018, SSM069, SSM029, SSM096, SSM026, SSM089, SSM035, SSM094, SSM031, SSM014, SSM086, SSM033, SSM006, SSM068, SSM072, SSM005, SSM080, SSM077, SSM076, SSM034, SSM098
Known GenesBBS9
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)esv2734232
Frequency
Sample Size96
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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