A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9895147



Internal ID1081543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29682009..29694563hg38UCSC Ensembl
Innerchr1:29682159..29694413hg38UCSC Ensembl
Outerchr1:29681859..29694713hg38UCSC Ensembl
chr1:30154856..30167410hg19UCSC Ensembl
Innerchr1:30155006..30167260hg19UCSC Ensembl
Outerchr1:30154706..30167560hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg3812555
hg1912555
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585609
Supporting Variants
SamplesHG00704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9895147
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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