A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11161155



Internal ID1162971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:139941861..139946951hg38UCSC Ensembl
Innerchr3:139941872..139946940hg38UCSC Ensembl
Outerchr3:139941850..139946962hg38UCSC Ensembl
chr3:139660703..139665793hg19UCSC Ensembl
Innerchr3:139660714..139665782hg19UCSC Ensembl
Outerchr3:139660692..139665804hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg385091
hg195091
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597943
Supporting Variants
SamplesHG02643
Known GenesCLSTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11161155
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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