A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv57e214



Internal ID20121480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:165273088..165277767hg38UCSC Ensembl
chr1:165242325..165247004hg19UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg384680
hg194680
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3587801, esv3587800
SamplesHG01974
Known GenesLMX1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv57e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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