A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12070830



Internal ID2698870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137515424..137521705hg38UCSC Ensembl
chr5:136851113..136857394hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386282
hg196282
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606902
Supporting Variants
SamplesHG02385
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12070830
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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