A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15969585



Internal ID4073205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:2675365..2683659hg38UCSC Ensembl
Innerchr19:2675423..2683609hg38UCSC Ensembl
Outerchr19:2675259..2683765hg38UCSC Ensembl
chr19:2675363..2683657hg19UCSC Ensembl
Innerchr19:2675421..2683607hg19UCSC Ensembl
Outerchr19:2675257..2683763hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg388295
hg198295
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643432
Supporting Variants
SamplesHG03706
Known GenesGNG7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15969585
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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