A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv751e214



Internal ID20122174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:173920627..173932730hg38UCSC Ensembl
chr2:174785355..174797458hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg3812104
hg1912104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3593392, esv3593393
SamplesNA20769, HG01121
Known GenesSP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv751e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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