A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10080960



Internal ID5036626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:115861399..115956767hg38UCSC Ensembl
chr1:116404020..116499388hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg3895369
hg1995369
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587294
Supporting Variants
SamplesNA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10080960
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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