A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10332902



Internal ID3751211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:235526721..235533341hg38UCSC Ensembl
Innerchr1:235526721..235533341hg38UCSC Ensembl
Outerchr1:235526516..235533640hg38UCSC Ensembl
chr1:235690022..235696641hg19UCSC Ensembl
Innerchr1:235690022..235696641hg19UCSC Ensembl
Outerchr1:235689817..235696940hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg386621
hg196620
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589197
Supporting Variants
SamplesHG03382
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10332902
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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