A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894738



Internal ID6520031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:28377862..28384744hg38UCSC Ensembl
Innerchr1:28378362..28384244hg38UCSC Ensembl
Outerchr1:28376862..28385744hg38UCSC Ensembl
chr1:28704373..28711255hg19UCSC Ensembl
Innerchr1:28704873..28710755hg19UCSC Ensembl
Outerchr1:28703373..28712255hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg386883
hg196883
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585580
Supporting Variants
SamplesHG03750
Known GenesPHACTR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894738
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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