A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15069416



Internal ID5071232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77488223..77490974hg38UCSC Ensembl
Innerchr14:77488237..77490961hg38UCSC Ensembl
Outerchr14:77488210..77490988hg38UCSC Ensembl
chr14:77954566..77957317hg19UCSC Ensembl
Innerchr14:77954580..77957304hg19UCSC Ensembl
Outerchr14:77954553..77957331hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382752
hg192752
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635006
Supporting Variants
SamplesHG03830
Known GenesISM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15069416
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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