A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16067261



Internal ID2699260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:45775365..45776345hg38UCSC Ensembl
Innerchr19:45775365..45776345hg38UCSC Ensembl
Outerchr19:45775365..45776345hg38UCSC Ensembl
chr19:46278623..46279603hg19UCSC Ensembl
Innerchr19:46278623..46279603hg19UCSC Ensembl
Outerchr19:46278623..46279603hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg38981
hg19981
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644512
Supporting Variants
SamplesHG02385
Known GenesDMPK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16067261
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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