A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9935702



Internal ID1878022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54898250..54903513hg38UCSC Ensembl
Innerchr1:54898250..54903513hg38UCSC Ensembl
Outerchr1:54897953..54903832hg38UCSC Ensembl
chr1:55363923..55369186hg19UCSC Ensembl
Innerchr1:55363923..55369186hg19UCSC Ensembl
Outerchr1:55363626..55369505hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385264
hg195264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586106
Supporting Variants
SamplesHG01771
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9935702
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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