A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589541



Internal ID6629830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248127071..248164294hg38UCSC Ensembl
chr1:248290373..248327596hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3837224
hg1937224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10376429, essv10376430, essv10376428
SamplesHG02778, HG03225, HG03397
Known GenesOR2M5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589541
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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