A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10264976



Internal ID888878
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:201422448..201423302hg38UCSC Ensembl
Innerchr1:201422448..201423302hg38UCSC Ensembl
Outerchr1:201422216..201423508hg38UCSC Ensembl
chr1:201391576..201392430hg19UCSC Ensembl
Innerchr1:201391576..201392430hg19UCSC Ensembl
Outerchr1:201391344..201392636hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38855
hg19855
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3588571
Supporting Variants
SamplesHG00478
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10264976
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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