A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6873261



Internal ID10269418
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:76644858..76645603hg38UCSC Ensembl
Outerchr8:77557093..77557838hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38746
hg19746
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2737204
Supporting Variants
SamplesSSM091
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)essv6873261
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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