A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6830763



Internal ID9884483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76644854..76645695hg38UCSC Ensembl
Outerchr8:77557089..77557930hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38842
hg19842
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737204
Supporting Variants
SamplesSSM081
Known GenesZFHX4-AS1
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)essv6830763
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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