A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587517



Internal ID6974940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150916207..150922802hg38UCSC Ensembl
Innerchr1:150916207..150922802hg38UCSC Ensembl
Outerchr1:150915707..150923302hg38UCSC Ensembl
chr1:150888683..150895278hg19UCSC Ensembl
Innerchr1:150888683..150895278hg19UCSC Ensembl
Outerchr1:150888183..150895778hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg386596
hg196596
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145234, essv10145233
SamplesHG04194, HG02082
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587517
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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