A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11945501



Internal ID2595769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75462479..75476633hg38UCSC Ensembl
Innerchr5:75462979..75476133hg38UCSC Ensembl
Outerchr5:75461479..75477633hg38UCSC Ensembl
chr5:74758304..74772458hg19UCSC Ensembl
Innerchr5:74758804..74771958hg19UCSC Ensembl
Outerchr5:74757304..74773458hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3814155
hg1914155
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605444
Supporting Variants
SamplesHG02301
Known GenesCOL4A3BP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11945501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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