A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587513



Internal ID6974936
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150877939..150879745hg38UCSC Ensembl
Innerchr1:150877950..150879735hg38UCSC Ensembl
Outerchr1:150877929..150879756hg38UCSC Ensembl
chr1:150850415..150852221hg19UCSC Ensembl
Innerchr1:150850426..150852211hg19UCSC Ensembl
Outerchr1:150850405..150852232hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381807
hg191807
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10145187, essv10145188
SamplesNA19118, NA19035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587513
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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