A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607362



Internal ID6994296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:160061307..160082069hg38UCSC Ensembl
Innerchr5:160061457..160081919hg38UCSC Ensembl
Outerchr5:160061157..160082219hg38UCSC Ensembl
chr5:159488314..159509076hg19UCSC Ensembl
Innerchr5:159488464..159508926hg19UCSC Ensembl
Outerchr5:159488164..159509226hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg3820763
hg1920763
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1151e214
Supporting Variantsessv12116486, essv12116487
SamplesHG01528, NA19779
Known GenesPWWP2A, TTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607362
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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