A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734698



Internal ID10318334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:77241030..77241463hg38UCSC Ensembl
Outerchr7:76870347..76870780hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38434
hg19434
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930777, essv6935062, essv6734567, essv6830460, essv6727421, essv6878839, essv6814602, essv6737192, essv6873005, essv6715818, essv6782505, essv6802790, essv6705311, essv6746146, essv6754783, essv6667721, essv6743369, essv6870013, essv6681044, essv6975315, essv6818574, essv6731175, essv6887254, essv6890388, essv6927081, essv6875959, essv6919166, essv6805682, essv6705532, essv6794977, essv6786723, essv6903998, essv6931250, essv6915322, essv6964216, essv6763420, essv6896972
SamplesSSM008, SSM071, SSM027, SSM046, SSM013, SSM073, SSM093, SSM050, SSM074, SSM058, SSM092, SSM090, SSM021, SSM047, SSM069, SSM029, SSM096, SSM017, SSM019, SSM003, SSM006, SSM068, SSM081, SSM040, SSM020, SSM078, SSM016, SSM053, SSM005, SSM077, SSM091, SSM055, SSM099, SSM043, SSM049, SSM030, SSM012
Known GenesCCDC146
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)esv2734698
Frequency
Sample Size96
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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