A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6848358



Internal ID9900318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:79284598..79284890hg38UCSC Ensembl
Outerchr4:80205752..80206044hg19UCSC Ensembl
Cytoband4q21.21
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2727859, esv2727860
Supporting Variants
SamplesSSM086
Known GenesLINC01088
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)essv6848358
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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