A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838021



Internal ID9891203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:40601464..40601655hg38UCSC Ensembl
Outerchr8:40458983..40459174hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2736916, esv2736914, esv2736913
Supporting Variants
SamplesSSM083
Known GenesZMAT4
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)essv6838021
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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