A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6963444



Internal ID9722499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:132275217..132275364hg38UCSC Ensembl
Outerchr5:131610910..131611057hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730785, esv2730788, esv2730787, esv2730786
Supporting Variants
SamplesSSM027
Known Genes
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)essv6963444
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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