A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607118



Internal ID6994053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:148644733..148648485hg38UCSC Ensembl
Innerchr5:148644733..148648485hg38UCSC Ensembl
Outerchr5:148644620..148648638hg38UCSC Ensembl
chr5:148024296..148028048hg19UCSC Ensembl
Innerchr5:148024296..148028048hg19UCSC Ensembl
Outerchr5:148024183..148028201hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383753
hg193753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12092914
SamplesNA20878
Known GenesHTR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607118
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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