A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607367



Internal ID6647608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160136720..160414186hg38UCSC Ensembl
Innerchr5:160136870..160414036hg38UCSC Ensembl
Outerchr5:160136570..160414336hg38UCSC Ensembl
chr5:159563727..159841193hg19UCSC Ensembl
Innerchr5:159563877..159841043hg19UCSC Ensembl
Outerchr5:159563577..159841343hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38277467
hg19277467
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12116526
SamplesHG01528
Known GenesC1QTNF2, C5orf54, CCNJL, FABP6, SLU7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607367
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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