A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12111004



Internal ID6454769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:156941957..156946604hg38UCSC Ensembl
Innerchr5:156941987..156946574hg38UCSC Ensembl
Outerchr5:156941927..156946634hg38UCSC Ensembl
chr5:156368968..156373615hg19UCSC Ensembl
Innerchr5:156368998..156373585hg19UCSC Ensembl
Outerchr5:156368938..156373645hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg384648
hg194648
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607303
Supporting Variants
SamplesNA20514
Known GenesTIMD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12111004
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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