A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593754



Internal ID6981077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:190422931..190427352hg38UCSC Ensembl
Innerchr2:190422940..190427344hg38UCSC Ensembl
Outerchr2:190422923..190427361hg38UCSC Ensembl
chr2:191287657..191292078hg19UCSC Ensembl
Innerchr2:191287666..191292070hg19UCSC Ensembl
Outerchr2:191287649..191292087hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg384422
hg194422
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10798750, essv10798751
SamplesHG02138, HG02408
Known GenesMFSD6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593754
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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