A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6858031



Internal ID10010474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:105667428..105667712hg38UCSC Ensembl
Outerchr7:105307875..105308159hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38285
hg19285
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734975, esv2734974
Supporting Variants
SamplesSSM011
Known GenesATXN7L1
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)essv6858031
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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