A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134047



Internal ID2135863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:173003167..173011646hg38UCSC Ensembl
Innerchr5:173003167..173011646hg38UCSC Ensembl
Outerchr5:173002891..173011955hg38UCSC Ensembl
chr5:172430170..172438649hg19UCSC Ensembl
Innerchr5:172430170..172438649hg19UCSC Ensembl
Outerchr5:172429894..172438958hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg388480
hg198480
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607603
Supporting Variants
SamplesHG00672
Known GenesATP6V0E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134047
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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