A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14966150



Internal ID5764444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34834943..34837614hg38UCSC Ensembl
Innerchr14:34834943..34837614hg38UCSC Ensembl
Outerchr14:34834672..34837846hg38UCSC Ensembl
chr14:35304149..35306820hg19UCSC Ensembl
Innerchr14:35304149..35306820hg19UCSC Ensembl
Outerchr14:35303878..35307052hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg382672
hg192672
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634041
Supporting Variants
SamplesNA19137
Known GenesBAZ1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14966150
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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