A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10280512



Internal ID4455367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207871033..207875370hg38UCSC Ensembl
Innerchr1:207871060..207875343hg38UCSC Ensembl
Outerchr1:207871006..207875397hg38UCSC Ensembl
chr1:208044378..208048715hg19UCSC Ensembl
Innerchr1:208044405..208048688hg19UCSC Ensembl
Outerchr1:208044351..208048742hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg384338
hg194338
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588678
Supporting Variants
SamplesHG03963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10280512
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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