A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643722



Internal ID6683792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13411953..13413343hg38UCSC Ensembl
Innerchr19:13412003..13413293hg38UCSC Ensembl
Outerchr19:13411896..13413400hg38UCSC Ensembl
chr19:13522767..13524157hg19UCSC Ensembl
Innerchr19:13522817..13524107hg19UCSC Ensembl
Outerchr19:13522710..13524214hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381391
hg191391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15995619, essv15995620, essv15995617, essv15995618, essv15995616
SamplesHG03711, NA19430, NA19017, NA19440, NA19466
Known GenesCACNA1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643722
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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