A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15997601



Internal ID5324995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:14864346..14892548hg38UCSC Ensembl
Innerchr19:14864496..14892398hg38UCSC Ensembl
Outerchr19:14864196..14892698hg38UCSC Ensembl
chr19:14975158..15003360hg19UCSC Ensembl
Innerchr19:14975308..15003210hg19UCSC Ensembl
Outerchr19:14975008..15003510hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3828203
hg1928203
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643754
Supporting Variants
SamplesNA18868
Known GenesOR7A17
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15997601
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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