A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10353247



Internal ID2231734
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:241114514..241184620hg38UCSC Ensembl
chr1:241277814..241347920hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3870107
hg1970107
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589332
Supporting Variants
SamplesHG02006
Known GenesMIR3123, RGS7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10353247
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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