A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10229575



Internal ID5567820
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:190228369..190232632hg38UCSC Ensembl
Innerchr1:190228381..190232621hg38UCSC Ensembl
Outerchr1:190228358..190232644hg38UCSC Ensembl
chr1:190197499..190201762hg19UCSC Ensembl
Innerchr1:190197511..190201751hg19UCSC Ensembl
Outerchr1:190197488..190201774hg19UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg384264
hg194264
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588296
Supporting Variants
SamplesNA19017
Known GenesBRINP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10229575
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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