A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441763



Internal ID2786240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:30448229..30451279hg38UCSC Ensembl
Innerchr16:30448272..30451236hg38UCSC Ensembl
Outerchr16:30448186..30451322hg38UCSC Ensembl
chr16:30459550..30462600hg19UCSC Ensembl
Innerchr16:30459593..30462557hg19UCSC Ensembl
Outerchr16:30459507..30462643hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383051
hg193051
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638386
Supporting Variants
SamplesHG02462
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441763
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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