A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9932170



Internal ID6557463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53516147..53517334hg38UCSC Ensembl
Innerchr1:53516197..53517284hg38UCSC Ensembl
Outerchr1:53515934..53517547hg38UCSC Ensembl
chr1:53981820..53983007hg19UCSC Ensembl
Innerchr1:53981870..53982957hg19UCSC Ensembl
Outerchr1:53981607..53983220hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586069
Supporting Variants
SamplesHG03782
Known GenesGLIS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9932170
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer