A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593572



Internal ID6633852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:182729039..182841265hg38UCSC Ensembl
chr2:183593766..183705993hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg38112227
hg19112228
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10788744
SamplesHG01936
Known GenesDNAJC10, FRZB
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593572
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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