A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593576



Internal ID6980900
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10788752, essv10788751, essv10788753, essv10788749, essv10788750
SamplesHG00272, HG00325, HG00282, HG01936, HG00308
Known GenesNCKAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593576
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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