A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606812



Internal ID6993747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132959206..132959877hg38UCSC Ensembl
Innerchr5:132959256..132959827hg38UCSC Ensembl
Outerchr5:132959109..132959974hg38UCSC Ensembl
chr5:132294898..132295569hg19UCSC Ensembl
Innerchr5:132294948..132295519hg19UCSC Ensembl
Outerchr5:132294801..132295666hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38672
hg19672
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12064691
SamplesNA18940
Known GenesAFF4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606812
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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