A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15999971



Internal ID6320094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:15387898..15396141hg38UCSC Ensembl
Innerchr19:15388398..15395641hg38UCSC Ensembl
Outerchr19:15386898..15397141hg38UCSC Ensembl
chr19:15498709..15506952hg19UCSC Ensembl
Innerchr19:15499209..15506452hg19UCSC Ensembl
Outerchr19:15497709..15507952hg19UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg388244
hg198244
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643769
Supporting Variants
SamplesNA19917
Known GenesAKAP8L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15999971
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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