A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607752



Internal ID6994683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179746476..179748234hg38UCSC Ensembl
Innerchr5:179746511..179748200hg38UCSC Ensembl
Outerchr5:179746442..179748269hg38UCSC Ensembl
chr5:179173477..179175235hg19UCSC Ensembl
Innerchr5:179173512..179175201hg19UCSC Ensembl
Outerchr5:179173443..179175270hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg381759
hg191759
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12150860
SamplesNA20766
Known GenesMAML1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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