A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585418



Internal ID6972942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:20229951..20232212hg38UCSC Ensembl
Innerchr1:20229976..20232187hg38UCSC Ensembl
Outerchr1:20229926..20232237hg38UCSC Ensembl
chr1:20556444..20558705hg19UCSC Ensembl
Innerchr1:20556469..20558680hg19UCSC Ensembl
Outerchr1:20556419..20558730hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg382262
hg192262
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9881650
SamplesHG02582
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585418
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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