A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002729



Internal ID6004545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16149438..16170044hg38UCSC Ensembl
Innerchr19:16149438..16170044hg38UCSC Ensembl
Outerchr19:16149191..16170353hg38UCSC Ensembl
chr19:16260248..16280855hg19UCSC Ensembl
Innerchr19:16260248..16280855hg19UCSC Ensembl
Outerchr19:16260001..16281164hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3820607
hg1920608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643791
Supporting Variants
SamplesHG01577
Known GenesCIB3, HSH2D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002729
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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