A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10152173



Internal ID153989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155213004..155236188hg38UCSC Ensembl
chr1:155182795..155205979hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3823185
hg1923185
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587620
Supporting Variants
SamplesHG01055
Known GenesGBA, GBAP1, MTX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10152173
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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