A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3622419



Internal ID6662589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:14205229..14207152hg38UCSC Ensembl
Innerchr10:14205229..14207152hg38UCSC Ensembl
Outerchr10:14204942..14207409hg38UCSC Ensembl
chr10:14247228..14249151hg19UCSC Ensembl
Innerchr10:14247228..14249151hg19UCSC Ensembl
Outerchr10:14246941..14249408hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381924
hg191924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13700693, essv13700692, essv13700695, essv13700694
SamplesHG00583, NA18543, NA18560, NA18555
Known GenesFRMD4A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3622419
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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