A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16058860



Internal ID6611174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43035486..43091727hg38UCSC Ensembl
Innerchr19:43035986..43091227hg38UCSC Ensembl
Outerchr19:43034486..43092727hg38UCSC Ensembl
chr19:43539638..43595879hg19UCSC Ensembl
Innerchr19:43540138..43595379hg19UCSC Ensembl
Outerchr19:43538638..43596879hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3856242
hg1956242
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644439
Supporting Variants
SamplesNA20775
Known GenesPSG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16058860
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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