A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10370793



Internal ID922973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246563151..246571010hg38UCSC Ensembl
chr1:246726453..246734312hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg387860
hg197860
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589483
Supporting Variants
SamplesHG00551
Known GenesCNST, TFB2M
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10370793
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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