A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9845268



Internal ID3456069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5299202..5302082hg38UCSC Ensembl
Innerchr1:5299204..5302081hg38UCSC Ensembl
Outerchr1:5299201..5302084hg38UCSC Ensembl
chr1:5359262..5362142hg19UCSC Ensembl
Innerchr1:5359264..5362141hg19UCSC Ensembl
Outerchr1:5359261..5362144hg19UCSC Ensembl
Cytoband1p36.32
Allele length
AssemblyAllele length
hg382881
hg192881
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585090
Supporting Variants
SamplesHG03081
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9845268
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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