A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145187



Internal ID5600638
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587513
Supporting Variants
SamplesNA19035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145187
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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