A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9860250



Internal ID3157588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13557837..13575960hg38UCSC Ensembl
Innerchr1:13558337..13575460hg38UCSC Ensembl
Outerchr1:13556837..13576960hg38UCSC Ensembl
chr1:13884332..13902455hg19UCSC Ensembl
Innerchr1:13884832..13901955hg19UCSC Ensembl
Outerchr1:13883332..13903455hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3818124
hg1918124
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585263
Supporting Variants
SamplesHG02780
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9860250
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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