A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6777885



Internal ID10183578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1061079..1061490hg38UCSC Ensembl
Outerchr5:1061194..1061605hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38412
hg19412
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729398
Supporting Variants
SamplesSSM067
Known GenesSLC12A7
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)essv6777885
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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