A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997323



Internal ID5999139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14548018..14555305hg38UCSC Ensembl
Innerchr19:14548051..14555272hg38UCSC Ensembl
Outerchr19:14547985..14555338hg38UCSC Ensembl
chr19:14658830..14666117hg19UCSC Ensembl
Innerchr19:14658863..14666084hg19UCSC Ensembl
Outerchr19:14658797..14666150hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg387288
hg197288
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643744
Supporting Variants
SamplesHG03894
Known GenesTECR
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997323
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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