A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607602



Internal ID6647842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172975116..172985419hg38UCSC Ensembl
Innerchr5:172975616..172984919hg38UCSC Ensembl
Outerchr5:172974116..172986419hg38UCSC Ensembl
chr5:172402119..172412422hg19UCSC Ensembl
Innerchr5:172402619..172411922hg19UCSC Ensembl
Outerchr5:172401119..172413422hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg3810304
hg1910304
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12134043, essv12134042
SamplesHG01697, HG03410
Known GenesATP6V0E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607602
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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