A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10010878



Internal ID3350471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89119990..89126777hg38UCSC Ensembl
Innerchr1:89120490..89126277hg38UCSC Ensembl
Outerchr1:89118990..89127777hg38UCSC Ensembl
chr1:89585673..89592460hg19UCSC Ensembl
Innerchr1:89586173..89591960hg19UCSC Ensembl
Outerchr1:89584673..89593460hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg386788
hg196788
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586753
Supporting Variants
SamplesHG03006
Known GenesGBP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10010878
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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