A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588101



Internal ID6975525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:182330179..182349337hg38UCSC Ensembl
chr1:182299314..182318472hg19UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3819159
hg1919159
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv65e214
Supporting Variantsessv10207584, essv10207583
SamplesHG01912, HG01556
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588101
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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