A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6676251



Internal ID9746848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:1229955..1230070hg38UCSC Ensembl
Outerchr5:1230070..1230185hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38116
hg19116
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729449, esv2729446, esv2729448
Supporting Variants
SamplesSSM032
Known GenesSLC6A18
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)essv6676251
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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