A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15042945



Internal ID2469612
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65066847..65069077hg38UCSC Ensembl
Innerchr14:65066848..65069076hg38UCSC Ensembl
Outerchr14:65066846..65069078hg38UCSC Ensembl
chr14:65533565..65535795hg19UCSC Ensembl
Innerchr14:65533566..65535794hg19UCSC Ensembl
Outerchr14:65533564..65535796hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg382231
hg192231
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634761
Supporting Variants
SamplesHG02179
Known GenesMAX
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15042945
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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