A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1149n209



Internal ID22827224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:74330784..74331276hg38UCSC Ensembl
chr2:74557911..74558403hg19UCSC Ensembl
Cytoband2p13.1
Allele length
AssemblyAllele length
hg38493
hg19493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv5869236, nsv5870773
Samples
Known GenesSLC4A5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)dgv1149n209
Frequency
Sample Size914
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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