A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10188399



Internal ID5860996
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:171439776..171442858hg38UCSC Ensembl
Innerchr1:171439926..171442708hg38UCSC Ensembl
Outerchr1:171439626..171443008hg38UCSC Ensembl
chr1:171408915..171411997hg19UCSC Ensembl
Innerchr1:171409065..171411847hg19UCSC Ensembl
Outerchr1:171408765..171412147hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg383083
hg193083
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587915
Supporting Variants
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10188399
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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