A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145208



Internal ID1811310
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150887778..150890329hg38UCSC Ensembl
Innerchr1:150887782..150890325hg38UCSC Ensembl
Outerchr1:150887774..150890333hg38UCSC Ensembl
chr1:150860254..150862805hg19UCSC Ensembl
Innerchr1:150860258..150862801hg19UCSC Ensembl
Outerchr1:150860250..150862809hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382552
hg192552
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587515
Supporting Variants
SamplesHG01684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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