A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643735



Internal ID6683805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14178323..14179615hg38UCSC Ensembl
Innerchr19:14178373..14179565hg38UCSC Ensembl
Outerchr19:14178271..14179667hg38UCSC Ensembl
chr19:14289135..14290427hg19UCSC Ensembl
Innerchr19:14289185..14290377hg19UCSC Ensembl
Outerchr19:14289083..14290479hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381293
hg191293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15997218
SamplesHG03607
Known GenesLPHN1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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