A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441722



Internal ID5443538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:29833198..29868952hg38UCSC Ensembl
Innerchr16:29833198..29868952hg38UCSC Ensembl
Outerchr16:29832698..29869452hg38UCSC Ensembl
chr16:29844519..29880273hg19UCSC Ensembl
Innerchr16:29844519..29880273hg19UCSC Ensembl
Outerchr16:29844019..29880773hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3835755
hg1935755
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638373
Supporting Variants
SamplesHG02325
Known GenesCDIPT, CDIPT-AS1, MVP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441722
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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