A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145158



Internal ID5781854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150237775..150238819hg38UCSC Ensembl
Innerchr1:150237825..150238769hg38UCSC Ensembl
Outerchr1:150237673..150238921hg38UCSC Ensembl
chr1:150210123..150211168hg19UCSC Ensembl
Innerchr1:150210173..150211118hg19UCSC Ensembl
Outerchr1:150210021..150211270hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg381045
hg191046
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587502
Supporting Variants
SamplesNA19147
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145158
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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