A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv756e214



Internal ID22756650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:188081513..188131194hg38UCSC Ensembl
chr2:188946240..188995921hg19UCSC Ensembl
Cytoband2q32.1
Allele length
AssemblyAllele length
hg3849682
hg1949682
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3593706, esv3593705
SamplesHG03781, NA20534
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv756e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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