A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588964



Internal ID6976380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:223827189..223828933hg38UCSC Ensembl
Innerchr1:223827189..223828933hg38UCSC Ensembl
Outerchr1:223826889..223829217hg38UCSC Ensembl
chr1:224014891..224016635hg19UCSC Ensembl
Innerchr1:224014891..224016635hg19UCSC Ensembl
Outerchr1:224014591..224016919hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg381745
hg191745
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10305241
SamplesNA18597
Known GenesTP53BP2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588964
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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