A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605445



Internal ID6992467
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11945507, essv11945508, essv11945503, essv11945502, essv11945505, essv11945504, essv11945506
SamplesHG03965, HG00122, HG02301, HG00118, HG03774, HG00119, HG03741
Known GenesCOL4A3BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605445
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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