A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6791193



Internal ID10194821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39374451..39529697hg38UCSC Ensembl
Outerchr8:39231970..39387216hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155247
hg19155247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736900
Supporting Variants
SamplesSSM070
Known GenesADAM3A, ADAM5
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)essv6791193
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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