A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15082936



Internal ID2407643
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:82737585..82740517hg38UCSC Ensembl
Innerchr14:82737586..82740517hg38UCSC Ensembl
Outerchr14:82737585..82740518hg38UCSC Ensembl
chr14:83203929..83206861hg19UCSC Ensembl
Innerchr14:83203930..83206861hg19UCSC Ensembl
Outerchr14:83203929..83206862hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg382933
hg192933
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635113
Supporting Variants
SamplesHG02134
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15082936
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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