A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv688e214



Internal ID22756582
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:40292487..40320542hg38UCSC Ensembl
chr2:40519627..40547682hg19UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg3828056
hg1928056
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3590455, esv3590456
SamplesNA19088, NA18977, NA20296, NA19309, HG03702
Known GenesSLC8A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv688e214
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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