A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10145239



Internal ID2871805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:151237373..151267334hg38UCSC Ensembl
chr1:151209849..151239810hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg3829962
hg1929962
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587521
Supporting Variants
SamplesHG02546
Known GenesPIP5K1A, PSMD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10145239
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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