A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14934688



Internal ID2581705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22612331..22614962hg38UCSC Ensembl
Innerchr14:22612381..22614912hg38UCSC Ensembl
Outerchr14:22612276..22615017hg38UCSC Ensembl
chr14:23081237..23083865hg19UCSC Ensembl
Innerchr14:23081287..23083815hg19UCSC Ensembl
Outerchr14:23081182..23083920hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg382632
hg192629
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633758
Supporting Variants
SamplesHG02284
Known GenesABHD4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14934688
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