A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10180845



Internal ID5711051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:166403397..166410440hg38UCSC Ensembl
Innerchr1:166403408..166410429hg38UCSC Ensembl
Outerchr1:166403386..166410451hg38UCSC Ensembl
chr1:166372634..166379677hg19UCSC Ensembl
Innerchr1:166372645..166379666hg19UCSC Ensembl
Outerchr1:166372623..166379688hg19UCSC Ensembl
Cytoband1q24.1
Allele length
AssemblyAllele length
hg387044
hg197044
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587825
Supporting Variants
SamplesNA19093
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10180845
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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