A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12134043



Internal ID2135859
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607602
Supporting Variants
SamplesHG03410
Known GenesATP6V0E1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12134043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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