A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3598930



Internal ID6985978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:183640639..183646873hg38UCSC Ensembl
Innerchr3:183640697..183646816hg38UCSC Ensembl
Outerchr3:183640582..183646931hg38UCSC Ensembl
chr3:183358427..183364661hg19UCSC Ensembl
Innerchr3:183358485..183364604hg19UCSC Ensembl
Outerchr3:183358370..183364719hg19UCSC Ensembl
Cytoband3q27.1
Allele length
AssemblyAllele length
hg386235
hg196235
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11253103, essv11253104
SamplesHG00536, HG00500
Known GenesKLHL24
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3598930
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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