A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997283



Internal ID5999099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14400728..14402421hg38UCSC Ensembl
Innerchr19:14400728..14402421hg38UCSC Ensembl
Outerchr19:14400452..14402708hg38UCSC Ensembl
chr19:14511540..14513233hg19UCSC Ensembl
Innerchr19:14511540..14513233hg19UCSC Ensembl
Outerchr19:14511264..14513520hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg381694
hg191694
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643741
Supporting Variants
SamplesHG01072
Known GenesCD97
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997283
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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