A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12147867



Internal ID801207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178321392..178324999hg38UCSC Ensembl
Innerchr5:178321434..178324958hg38UCSC Ensembl
Outerchr5:178321351..178325041hg38UCSC Ensembl
chr5:177748393..177752000hg19UCSC Ensembl
Innerchr5:177748435..177751959hg19UCSC Ensembl
Outerchr5:177748352..177752042hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg383608
hg193608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607713
Supporting Variants
SamplesHG00380
Known GenesCOL23A1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12147867
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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