A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12132670



Internal ID2134486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:172130248..172135831hg38UCSC Ensembl
Innerchr5:172130398..172135681hg38UCSC Ensembl
Outerchr5:172130098..172135981hg38UCSC Ensembl
chr5:171557252..171562835hg19UCSC Ensembl
Innerchr5:171557402..171562685hg19UCSC Ensembl
Outerchr5:171557102..171562985hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg385584
hg195584
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607589
Supporting Variants
SamplesHG00443
Known GenesSTK10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12132670
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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