A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11946121



Internal ID3688749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76369662..76371218hg38UCSC Ensembl
Innerchr5:76369662..76371218hg38UCSC Ensembl
Outerchr5:76369393..76371391hg38UCSC Ensembl
chr5:75665487..75667043hg19UCSC Ensembl
Innerchr5:75665487..75667043hg19UCSC Ensembl
Outerchr5:75665218..75667216hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg381557
hg191557
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605463
Supporting Variants
SamplesHG03295
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11946121
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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