A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16041340



Internal ID6043156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:32839265..32841435hg38UCSC Ensembl
Innerchr19:32839276..32841424hg38UCSC Ensembl
Outerchr19:32839254..32841446hg38UCSC Ensembl
chr19:33330171..33332341hg19UCSC Ensembl
Innerchr19:33330182..33332330hg19UCSC Ensembl
Outerchr19:33330160..33332352hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg382171
hg192171
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644178
Supporting Variants
SamplesHG03054
Known GenesSLC7A9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16041340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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