A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607077



Internal ID6647319
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12088194, essv12088193
SamplesHG00145, NA19473
Known GenesTCERG1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607077
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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