A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945504



Internal ID410234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75463861..75467204hg38UCSC Ensembl
Innerchr5:75463861..75467204hg38UCSC Ensembl
Outerchr5:75463581..75467396hg38UCSC Ensembl
chr5:74759686..74763029hg19UCSC Ensembl
Innerchr5:74759686..74763029hg19UCSC Ensembl
Outerchr5:74759406..74763221hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg383344
hg193344
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605445
Supporting Variants
SamplesHG00122
Known GenesCOL4A3BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945504
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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