A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838017



Internal ID10237886
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:39096100..39096362hg38UCSC Ensembl
Outerchr8:38953619..38953881hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38263
hg19263
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736897
Supporting Variants
SamplesSSM083
Known GenesADAM9
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)essv6838017
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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