A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10317415



Internal ID4565629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230002836..230005475hg38UCSC Ensembl
Innerchr1:230002844..230005468hg38UCSC Ensembl
Outerchr1:230002829..230005483hg38UCSC Ensembl
chr1:230138583..230141222hg19UCSC Ensembl
Innerchr1:230138591..230141215hg19UCSC Ensembl
Outerchr1:230138576..230141230hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg382640
hg192640
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589086
Supporting Variants
SamplesHG04070
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10317415
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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