A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054956



Internal ID1562828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40846558..40877202hg38UCSC Ensembl
Innerchr19:40847058..40876702hg38UCSC Ensembl
Outerchr19:40845558..40878202hg38UCSC Ensembl
chr19:41352463..41383107hg19UCSC Ensembl
Innerchr19:41352963..41382607hg19UCSC Ensembl
Outerchr19:41351463..41384107hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3830645
hg1930645
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644361
Supporting Variants
SamplesHG01443
Known GenesCYP2A6, CYP2A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054956
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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