A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894610



Internal ID6519904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28145578..28149343hg38UCSC Ensembl
Innerchr1:28145578..28149343hg38UCSC Ensembl
Outerchr1:28145422..28149439hg38UCSC Ensembl
chr1:28472089..28475854hg19UCSC Ensembl
Innerchr1:28472089..28475854hg19UCSC Ensembl
Outerchr1:28471933..28475950hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg383766
hg193766
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585573
Supporting Variants
SamplesNA19009
Known GenesPTAFR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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