A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10788752



Internal ID790568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182891378..182928868hg38UCSC Ensembl
chr2:183756106..183793596hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3837491
hg1937491
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593576
Supporting Variants
SamplesHG00325
Known GenesNCKAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10788752
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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