A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13821442



Internal ID557660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:55590670..55602269hg38UCSC Ensembl
Innerchr10:55590670..55602269hg38UCSC Ensembl
Outerchr10:55590170..55602769hg38UCSC Ensembl
chr10:57350430..57362029hg19UCSC Ensembl
Innerchr10:57350430..57362029hg19UCSC Ensembl
Outerchr10:57349930..57362529hg19UCSC Ensembl
Cytoband10q21.1
Allele length
AssemblyAllele length
hg3811600
hg1911600
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3623350
Supporting Variants
SamplesHG00243
Known GenesMTRNR2L5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13821442
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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