A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945509



Internal ID3481583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75498155..75503145hg38UCSC Ensembl
Innerchr5:75498157..75503143hg38UCSC Ensembl
Outerchr5:75498153..75503147hg38UCSC Ensembl
chr5:74793980..74798970hg19UCSC Ensembl
Innerchr5:74793982..74798968hg19UCSC Ensembl
Outerchr5:74793978..74798972hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg384991
hg194991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605446
Supporting Variants
SamplesHG03096
Known GenesCOL4A3BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945509
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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