A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12088193



Internal ID2090009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:146483830..146486084hg38UCSC Ensembl
Innerchr5:146483836..146486078hg38UCSC Ensembl
Outerchr5:146483824..146486090hg38UCSC Ensembl
chr5:145863393..145865647hg19UCSC Ensembl
Innerchr5:145863399..145865641hg19UCSC Ensembl
Outerchr5:145863387..145865653hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg382255
hg192255
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607077
Supporting Variants
SamplesHG00145
Known GenesTCERG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12088193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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