A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588557



Internal ID6975974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200250636..200252217hg38UCSC Ensembl
Innerchr1:200250644..200252209hg38UCSC Ensembl
Outerchr1:200250628..200252225hg38UCSC Ensembl
chr1:200219764..200221345hg19UCSC Ensembl
Innerchr1:200219772..200221337hg19UCSC Ensembl
Outerchr1:200219756..200221353hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381582
hg191582
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10264488, essv10264490, essv10264489
SamplesNA19320, HG03198, HG03271
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588557
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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