A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11286364



Internal ID2675843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194765430..194770239hg38UCSC Ensembl
Innerchr3:194765430..194770239hg38UCSC Ensembl
Outerchr3:194765399..194770308hg38UCSC Ensembl
chr3:194486159..194490968hg19UCSC Ensembl
Innerchr3:194486159..194490968hg19UCSC Ensembl
Outerchr3:194486128..194491037hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg384810
hg194810
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599217
Supporting Variants
SamplesHG02371
Known GenesLOC100507391
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11286364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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