A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145553



Internal ID4698643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151452694..151457755hg38UCSC Ensembl
Innerchr1:151452749..151457700hg38UCSC Ensembl
Outerchr1:151452639..151457810hg38UCSC Ensembl
chr1:151425170..151430231hg19UCSC Ensembl
Innerchr1:151425225..151430176hg19UCSC Ensembl
Outerchr1:151425115..151430286hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg385062
hg195062
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587529
Supporting Variants
SamplesHG04219
Known GenesPOGZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145553
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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