A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6680040



Internal ID9749648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:147537799..147537979hg38UCSC Ensembl
Outerchr4:148458951..148459131hg19UCSC Ensembl
Cytoband4q31.22
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728508
Supporting Variants
SamplesSSM033
Known GenesEDNRA
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)essv6680040
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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