A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587233



Internal ID6974660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113173750..113179548hg38UCSC Ensembl
Innerchr1:113173773..113179525hg38UCSC Ensembl
Outerchr1:113173727..113179571hg38UCSC Ensembl
chr1:113716372..113722170hg19UCSC Ensembl
Innerchr1:113716395..113722147hg19UCSC Ensembl
Outerchr1:113716349..113722193hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg385799
hg195799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10076904, essv10076905
SamplesHG02419, NA18523
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587233
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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