A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589673



Internal ID6977002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4069008..4085407hg38UCSC Ensembl
Innerchr2:4069008..4085407hg38UCSC Ensembl
Outerchr2:4068701..4085717hg38UCSC Ensembl
chr2:4116599..4132998hg19UCSC Ensembl
Innerchr2:4116599..4132998hg19UCSC Ensembl
Outerchr2:4116292..4133308hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3816400
hg1916400
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10399633, essv10399635, essv10399631, essv10399634, essv10399632
SamplesHG01603, HG00276, HG04093, HG02778, NA21104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589673
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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