A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv746e214



Internal ID22756640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154394217..154437251hg38UCSC Ensembl
chr2:155250729..155293763hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3843035
hg1943035
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3592987, esv3592989
SamplesNA19379
Known GenesGALNT13, LOC100144595
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv746e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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