A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15363305



Internal ID2037513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:3862016..3862420hg38UCSC Ensembl
Innerchr16:3862066..3862370hg38UCSC Ensembl
Outerchr16:3861947..3862489hg38UCSC Ensembl
chr16:3912017..3912421hg19UCSC Ensembl
Innerchr16:3912067..3912371hg19UCSC Ensembl
Outerchr16:3911948..3912490hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38405
hg19405
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637676
Supporting Variants
SamplesHG01867
Known GenesCREBBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15363305
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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