A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588609



Internal ID6976025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:203938311..203952927hg38UCSC Ensembl
Innerchr1:203938811..203952427hg38UCSC Ensembl
Outerchr1:203937311..203953927hg38UCSC Ensembl
chr1:203907439..203922055hg19UCSC Ensembl
Innerchr1:203907939..203921555hg19UCSC Ensembl
Outerchr1:203906439..203923055hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3814617
hg1914617
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10266714, essv10266711, essv10266710, essv10266713, essv10266709, essv10266712, essv10266708, essv10266707, essv10266715, essv10266706
SamplesHG01325, HG00129, NA07347, HG01048, HG01058, HG01073, HG00350, HG01494, NA20786, HG00554
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588609
Frequency
Sample Size2504
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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