A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587619



Internal ID6975041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155213004..155236188hg38UCSC Ensembl
chr1:155182795..155205979hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3823185
hg1923185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10152160, essv10152166, essv10152168, essv10152158, essv10152159, essv10152165, essv10152164, essv10152167, essv10152170, essv10152162, essv10152163, essv10152157, essv10152169, essv10152161, essv10152171
SamplesNA21099, HG03836, HG02023, HG00109, HG00238, HG02733, NA19922, HG04214, NA19024, HG00422, HG00543, HG02142, HG02731, HG03428, NA21133
Known GenesGBA, GBAP1, MTX1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587619
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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