A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894559



Internal ID642844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28119414..28121824hg38UCSC Ensembl
Innerchr1:28119414..28121824hg38UCSC Ensembl
Outerchr1:28119089..28122162hg38UCSC Ensembl
chr1:28445925..28448335hg19UCSC Ensembl
Innerchr1:28445925..28448335hg19UCSC Ensembl
Outerchr1:28445600..28448673hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382411
hg192411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585570
Supporting Variants
SamplesHG00281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894559
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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