A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587036



Internal ID6974463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:104203993..104208551hg38UCSC Ensembl
Innerchr1:104203993..104208551hg38UCSC Ensembl
Outerchr1:104203769..104208731hg38UCSC Ensembl
chr1:104746615..104751173hg19UCSC Ensembl
Innerchr1:104746615..104751173hg19UCSC Ensembl
Outerchr1:104746391..104751353hg19UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg384559
hg194559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10041508
SamplesNA18612
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587036
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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