A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735191



Internal ID10318827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:135588200..135590342hg38UCSC Ensembl
Outerchr7:135272948..135275090hg19UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6754823, essv6935102
SamplesSSM058, SSM021
Known GenesNUP205
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)esv2735191
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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