A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585571



Internal ID6973093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28131369..28131869hg38UCSC Ensembl
Innerchr1:28131407..28131831hg38UCSC Ensembl
Outerchr1:28131331..28131907hg38UCSC Ensembl
chr1:28457880..28458380hg19UCSC Ensembl
Innerchr1:28457918..28458342hg19UCSC Ensembl
Outerchr1:28457842..28458418hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38501
hg19501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9894562, essv9894561, essv9894560
SamplesHG01072, HG00732, HG01055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585571
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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