A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10644352



Internal ID4479243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:121558354..121577550hg38UCSC Ensembl
chr2:122315930..122335126hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg3819197
hg1919197
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592208
Supporting Variants
SamplesHG03978
Known GenesCLASP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10644352
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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