A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6822748



Internal ID10223955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:105667425..105667730hg38UCSC Ensembl
Outerchr7:105307872..105308177hg19UCSC Ensembl
Cytoband7q22.3
Allele length
AssemblyAllele length
hg38306
hg19306
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734975, esv2734974
Supporting Variants
SamplesSSM079
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)essv6822748
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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