A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10599253



Internal ID601069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105771797..105775058hg38UCSC Ensembl
chr2:106388254..106391515hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg383262
hg193262
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591839
Supporting Variants
SamplesHG01250
Known GenesNCK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10599253
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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