A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10284203



Internal ID6628971
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:209904708..209912633hg38UCSC Ensembl
Innerchr1:209904708..209912633hg38UCSC Ensembl
Outerchr1:209904286..209913114hg38UCSC Ensembl
chr1:210078053..210085978hg19UCSC Ensembl
Innerchr1:210078053..210085978hg19UCSC Ensembl
Outerchr1:210077631..210086459hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg387926
hg197926
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588710
Supporting Variants
SamplesNA20792
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10284203
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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