A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997292



Internal ID5999108
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643743
Supporting Variants
SamplesHG03370
Known GenesTECR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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