A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10278511



Internal ID5834925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:207148658..207173947hg38UCSC Ensembl
Innerchr1:207148660..207173945hg38UCSC Ensembl
Outerchr1:207148656..207173949hg38UCSC Ensembl
chr1:207322003..207347292hg19UCSC Ensembl
Innerchr1:207322005..207347290hg19UCSC Ensembl
Outerchr1:207322001..207347294hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg3825290
hg1925290
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588668
Supporting Variants
SamplesNA19209
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10278511
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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