A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735203



Internal ID10318839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:137149696..137150032hg38UCSC Ensembl
Outerchr7:136834443..136834779hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38337
hg19337
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975424, essv6890523, essv6887296, essv6841579, essv6964301, essv6837780, essv6684317, essv6861308, essv6822774, essv6671666, essv6849698, essv6866024, essv6893860, essv6814647, essv6897021, essv6795032, essv6676926, essv6811592, essv6881692, essv6826769
SamplesSSM083, SSM071, SSM027, SSM079, SSM097, SSM088, SSM084, SSM029, SSM096, SSM089, SSM094, SSM032, SSM031, SSM086, SSM080, SSM077, SSM076, SSM034, SSM099, SSM098
Known GenesLOC349160
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)esv2735203
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer