A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14934659



Internal ID2905849
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22583311..22584651hg38UCSC Ensembl
Innerchr14:22583313..22584649hg38UCSC Ensembl
Outerchr14:22583309..22584653hg38UCSC Ensembl
chr14:23052216..23053556hg19UCSC Ensembl
Innerchr14:23052218..23053554hg19UCSC Ensembl
Outerchr14:23052214..23053558hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381341
hg191341
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633757
Supporting Variants
SamplesHG02574
Known GenesDAD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14934659
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