A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607044



Internal ID6993979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:144599010..144643220hg38UCSC Ensembl
Innerchr5:144599010..144643220hg38UCSC Ensembl
Outerchr5:144598510..144643720hg38UCSC Ensembl
chr5:143978573..144022783hg19UCSC Ensembl
Innerchr5:143978573..144022783hg19UCSC Ensembl
Outerchr5:143978073..144023283hg19UCSC Ensembl
Cytoband5q31.3
Allele length
AssemblyAllele length
hg3844211
hg1944211
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12085978, essv12085979, essv12085977
SamplesHG01280, HG01284, HG01253
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607044
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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