A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15441842



Internal ID5443658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:31388377..31405192hg38UCSC Ensembl
Innerchr16:31388527..31405042hg38UCSC Ensembl
Outerchr16:31388227..31405342hg38UCSC Ensembl
chr16:31399698..31416513hg19UCSC Ensembl
Innerchr16:31399848..31416363hg19UCSC Ensembl
Outerchr16:31399548..31416663hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3816816
hg1916816
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638398
Supporting Variants
SamplesNA20299
Known GenesITGAD
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15441842
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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