A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15986732



Internal ID3900849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:6803605..6816250hg38UCSC Ensembl
Innerchr19:6804105..6815750hg38UCSC Ensembl
Outerchr19:6802605..6817250hg38UCSC Ensembl
chr19:6803616..6816261hg19UCSC Ensembl
Innerchr19:6804116..6815761hg19UCSC Ensembl
Outerchr19:6802616..6817261hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3812646
hg1912646
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643566
Supporting Variants
SamplesHG03557
Known GenesVAV1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15986732
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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