A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607242



Internal ID6994176
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:154422888..154427537hg38UCSC Ensembl
Innerchr5:154423388..154427037hg38UCSC Ensembl
Outerchr5:154421888..154428537hg38UCSC Ensembl
chr5:153802448..153807097hg19UCSC Ensembl
Innerchr5:153802948..153806597hg19UCSC Ensembl
Outerchr5:153801448..153808097hg19UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg384650
hg194650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12104325, essv12104331, essv12104329, essv12104332, essv12104333, essv12104326, essv12104327, essv12104328, essv12104330
SamplesHG01485, NA19920, HG02549, HG03209, HG02573, HG02885, NA20282, NA19108, HG02053
Known GenesSAP30L-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607242
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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