A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585879



Internal ID6973399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:44111862..44115420hg38UCSC Ensembl
Innerchr1:44112012..44115270hg38UCSC Ensembl
Outerchr1:44111712..44115570hg38UCSC Ensembl
chr1:44577534..44581092hg19UCSC Ensembl
Innerchr1:44577684..44580942hg19UCSC Ensembl
Outerchr1:44577384..44581242hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg383559
hg193559
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9924608, essv9924609
SamplesHG02703, HG03538
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585879
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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