A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588965



Internal ID6976381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223989447..223992515hg38UCSC Ensembl
Innerchr1:223989513..223992449hg38UCSC Ensembl
Outerchr1:223989381..223992581hg38UCSC Ensembl
chr1:224177149..224180217hg19UCSC Ensembl
Innerchr1:224177215..224180151hg19UCSC Ensembl
Outerchr1:224177083..224180283hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg383069
hg193069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10305242, essv10305243
SamplesHG01694, NA19471
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588965
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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