A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16056089



Internal ID6067704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:41466726..41502300hg38UCSC Ensembl
Innerchr19:41466876..41502150hg38UCSC Ensembl
Outerchr19:41466576..41502450hg38UCSC Ensembl
chr19:41972631..42008216hg19UCSC Ensembl
Innerchr19:41972781..42008066hg19UCSC Ensembl
Outerchr19:41972481..42008366hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3835575
hg1935586
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644382
Supporting Variants
SamplesNA19456
Known GenesLOC100505495
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16056089
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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