A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14923768



Internal ID2838027
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20239929..20276665hg38UCSC Ensembl
Innerchr14:20239929..20276665hg38UCSC Ensembl
Outerchr14:20239429..20277165hg38UCSC Ensembl
chr14:20708088..20744824hg19UCSC Ensembl
Innerchr14:20708088..20744824hg19UCSC Ensembl
Outerchr14:20707588..20745324hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3836737
hg1936737
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633682
Supporting Variants
SamplesHG02502
Known GenesOR11H4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14923768
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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