A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634851



Internal ID6674965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70081447..70086106hg38UCSC Ensembl
Innerchr14:70081461..70086093hg38UCSC Ensembl
Outerchr14:70081434..70086120hg38UCSC Ensembl
chr14:70548164..70552823hg19UCSC Ensembl
Innerchr14:70548178..70552810hg19UCSC Ensembl
Outerchr14:70548151..70552837hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg384660
hg194660
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15052471, essv15052470
SamplesHG02052, HG00311
Known GenesSLC8A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634851
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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