A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10356777



Internal ID1687260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:242580447..242621304hg38UCSC Ensembl
chr1:242743749..242784606hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3840858
hg1940858
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589370
Supporting Variants
SamplesHG01565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10356777
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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