A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643743



Internal ID6683813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14539041..14542585hg38UCSC Ensembl
Innerchr19:14539041..14542585hg38UCSC Ensembl
Outerchr19:14538913..14542671hg38UCSC Ensembl
chr19:14649853..14653397hg19UCSC Ensembl
Innerchr19:14649853..14653397hg19UCSC Ensembl
Outerchr19:14649725..14653483hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg383545
hg193545
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15997292, essv15997293
SamplesHG03370, NA18868
Known GenesTECR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643743
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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