A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588768



Internal ID6976184
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:213398416..213402875hg38UCSC Ensembl
chr1:213571759..213576218hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg384460
hg194460
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10291232, essv10291234, essv10291229, essv10291231, essv10291230, essv10291233, essv10291235, essv10291228
SamplesNA18519, HG02620, NA19137, NA18864, HG02442, NA19184, HG03081, HG03437
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588768
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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