A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735249



Internal ID10318885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:141791921..141792173hg38UCSC Ensembl
Outerchr7:141491721..141491973hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38253
hg19253
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6911675, essv6818657, essv6927133, essv6855772, essv6834115, essv6830514, essv6705361, essv6930831, essv6676934, essv6849705, essv6870066, essv6705898, essv6893866, essv6765231, essv6786779, essv6881696, essv6969779, essv6814653, essv6975435, essv6808705, essv6861317, essv6740300, essv6964312, essv6811603, essv6943839, essv6887302
SamplesSSM027, SSM075, SSM087, SSM088, SSM023, SSM028, SSM090, SSM069, SSM029, SSM096, SSM019, SSM094, SSM032, SSM086, SSM006, SSM081, SSM040, SSM082, SSM020, SSM015, SSM078, SSM077, SSM076, SSM052, SSM098, SSM063
Known Genes
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)esv2735249
Frequency
Sample Size96
Observed Gain0
Observed Loss26
Observed Complex0
Frequencyn/a


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