A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280523



Internal ID1615584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207951635..207961619hg38UCSC Ensembl
Innerchr1:207951635..207961619hg38UCSC Ensembl
Outerchr1:207951135..207962119hg38UCSC Ensembl
chr1:208124980..208134964hg19UCSC Ensembl
Innerchr1:208124980..208134964hg19UCSC Ensembl
Outerchr1:208124480..208135464hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg389985
hg199985
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588681
Supporting Variants
SamplesHG01497
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280523
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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