A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9894219



Internal ID3094536
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:27203520..27209975hg38UCSC Ensembl
Innerchr1:27203534..27209962hg38UCSC Ensembl
Outerchr1:27203507..27209989hg38UCSC Ensembl
chr1:27530011..27536466hg19UCSC Ensembl
Innerchr1:27530025..27536453hg19UCSC Ensembl
Outerchr1:27529998..27536480hg19UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg386456
hg196456
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585555
Supporting Variants
SamplesHG02721
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9894219
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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