A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15969587



Internal ID2317309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2683165..2689626hg38UCSC Ensembl
Innerchr19:2683315..2689476hg38UCSC Ensembl
Outerchr19:2683015..2689776hg38UCSC Ensembl
chr19:2683163..2689624hg19UCSC Ensembl
Innerchr19:2683313..2689474hg19UCSC Ensembl
Outerchr19:2683013..2689774hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386462
hg196462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643433
Supporting Variants
SamplesHG02064
Known GenesGNG7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15969587
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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