A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6964265



Internal ID10070825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:105667421..105667704hg38UCSC Ensembl
Outerchr7:105307868..105308151hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734975, esv2734974
Supporting Variants
SamplesSSM027
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)essv6964265
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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