A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16002867



Internal ID6020753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:16948582..16950259hg38UCSC Ensembl
Innerchr19:16948592..16950250hg38UCSC Ensembl
Outerchr19:16948573..16950269hg38UCSC Ensembl
chr19:17059392..17061069hg19UCSC Ensembl
Innerchr19:17059402..17061060hg19UCSC Ensembl
Outerchr19:17059383..17061079hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg381678
hg191678
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643805
Supporting Variants
SamplesNA19431
Known GenesCPAMD8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16002867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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