A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586039



Internal ID6973558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:51555196..51569463hg38UCSC Ensembl
Innerchr1:51555196..51569463hg38UCSC Ensembl
Outerchr1:51554941..51569690hg38UCSC Ensembl
chr1:52020868..52035135hg19UCSC Ensembl
Innerchr1:52020868..52035135hg19UCSC Ensembl
Outerchr1:52020613..52035362hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3814268
hg1914268
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9929317, essv9929319, essv9929318
SamplesHG02151, HG02156, HG02032
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586039
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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