A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588970



Internal ID6976386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224254018..224255826hg38UCSC Ensembl
Innerchr1:224254056..224255788hg38UCSC Ensembl
Outerchr1:224253980..224255864hg38UCSC Ensembl
chr1:224441720..224443528hg19UCSC Ensembl
Innerchr1:224441758..224443490hg19UCSC Ensembl
Outerchr1:224441682..224443566hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg381809
hg191809
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10306505
SamplesHG03166
Known GenesNVL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588970
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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