A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10345442



Internal ID4479901
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239974622..240139559hg38UCSC Ensembl
chr1:240137922..240302859hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38164938
hg19164938
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589293
Supporting Variants
SamplesHG03978
Known GenesFMN2, RPS7P5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10345442
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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