A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15055393



Internal ID4048568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72099433..72104091hg38UCSC Ensembl
Innerchr14:72099448..72104076hg38UCSC Ensembl
Outerchr14:72099418..72104106hg38UCSC Ensembl
chr14:72566150..72570808hg19UCSC Ensembl
Innerchr14:72566165..72570793hg19UCSC Ensembl
Outerchr14:72566135..72570823hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384659
hg194659
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634884
Supporting Variants
SamplesHG03692
Known GenesRGS6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15055393
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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