A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599217



Internal ID6986265
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11286364, essv11286363
SamplesHG01953, HG02371
Known GenesLOC100507391
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599217
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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