A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638350



Internal ID7025136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28885039..28886788hg38UCSC Ensembl
Innerchr16:28885039..28886788hg38UCSC Ensembl
Outerchr16:28884718..28887089hg38UCSC Ensembl
chr16:28896360..28898109hg19UCSC Ensembl
Innerchr16:28896360..28898109hg19UCSC Ensembl
Outerchr16:28896039..28898410hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg381750
hg191750
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15441242, essv15441245, essv15441243, essv15441244
SamplesHG00346, HG00328, HG00329, HG00274
Known GenesATP2A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638350
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer