A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735614



Internal ID10319250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:156120209..156121172hg38UCSC Ensembl
Outerchr7:155912903..155913866hg19UCSC Ensembl
Cytoband7q36.3
Allele length
AssemblyAllele length
hg38964
hg19964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6975523, essv6893916, essv6904105, essv6719826, essv6855835, essv6911728, essv6795095, essv6923468, essv6774946, essv6701527, essv6705422
SamplesSSM071, SSM087, SSM039, SSM013, SSM018, SSM029, SSM044, SSM066, SSM040, SSM015, SSM098
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)esv2735614
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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