A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9961185



Internal ID2307899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68381903..68385939hg38UCSC Ensembl
Innerchr1:68381907..68385936hg38UCSC Ensembl
Outerchr1:68381900..68385943hg38UCSC Ensembl
chr1:68847586..68851622hg19UCSC Ensembl
Innerchr1:68847590..68851619hg19UCSC Ensembl
Outerchr1:68847583..68851626hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg384037
hg194037
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586321
Supporting Variants
SamplesHG02057
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9961185
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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