A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735133



Internal ID10318769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:128108005..128108156hg38UCSC Ensembl
Outerchr7:127748057..127748208hg19UCSC Ensembl
Cytoband7q32.1
Allele length
AssemblyAllele length
hg38152
hg19152
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6930816, essv6861299, essv6849687, essv6818640, essv6866016, essv6948158, essv6943826, essv6957593, essv6975404, essv6671650, essv6826757, essv6855747, essv6964283
SamplesSSM027, SSM024, SSM087, SSM088, SSM023, SSM029, SSM026, SSM089, SSM031, SSM086, SSM020, SSM078, SSM080
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)esv2735133
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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