A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859973



Internal ID10260213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:151016876..151017023hg38UCSC Ensembl
Outerchr3:150734663..150734810hg19UCSC Ensembl
Cytoband3q25.1
Allele length
AssemblyAllele length
hg38148
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726048, esv2726047
Supporting Variants
SamplesSSM088
Known GenesCLRN1-AS1
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)essv6859973
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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