A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597742



Internal ID6638009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129400638..129408733hg38UCSC Ensembl
Innerchr3:129400651..129408720hg38UCSC Ensembl
Outerchr3:129400625..129408746hg38UCSC Ensembl
chr3:129119481..129127576hg19UCSC Ensembl
Innerchr3:129119494..129127563hg19UCSC Ensembl
Outerchr3:129119468..129127589hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg388096
hg198096
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11145385, essv11145386
SamplesHG02600, HG02256
Known GenesEFCAB12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597742
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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