A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441802



Internal ID5746011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31060769..31064428hg38UCSC Ensembl
Innerchr16:31060769..31064428hg38UCSC Ensembl
Outerchr16:31060269..31064928hg38UCSC Ensembl
chr16:31072090..31075749hg19UCSC Ensembl
Innerchr16:31072090..31075749hg19UCSC Ensembl
Outerchr16:31071590..31076249hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg383660
hg193660
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638391
Supporting Variants
SamplesNA19118
Known GenesZNF668
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441802
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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