A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15108044



Internal ID1269205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:100477958..100480950hg38UCSC Ensembl
Innerchr14:100478017..100480891hg38UCSC Ensembl
Outerchr14:100477899..100481009hg38UCSC Ensembl
chr14:100944295..100947287hg19UCSC Ensembl
Innerchr14:100944354..100947228hg19UCSC Ensembl
Outerchr14:100944236..100947346hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg382993
hg192993
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635507
Supporting Variants
SamplesHG01119
Known GenesWDR25
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15108044
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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