A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10212971



Internal ID2014278
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:186773584..186793720hg38UCSC Ensembl
chr1:186742716..186762852hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3820137
hg1920137
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588155
Supporting Variants
SamplesHG01858
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10212971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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