A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586958



Internal ID6627266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:100987009..100992949hg38UCSC Ensembl
Innerchr1:100987009..100992949hg38UCSC Ensembl
Outerchr1:100986761..100993176hg38UCSC Ensembl
chr1:101452565..101458505hg19UCSC Ensembl
Innerchr1:101452565..101458505hg19UCSC Ensembl
Outerchr1:101452317..101458732hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg385941
hg195941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10032563
SamplesNA18597
Known GenesDPH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586958
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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