A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596051



Internal ID6983369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:45501795..45510569hg38UCSC Ensembl
Innerchr3:45501796..45510568hg38UCSC Ensembl
Outerchr3:45501794..45510570hg38UCSC Ensembl
chr3:45543287..45552061hg19UCSC Ensembl
Innerchr3:45543288..45552060hg19UCSC Ensembl
Outerchr3:45543286..45552062hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388775
hg198775
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10996947, essv10996939, essv10996943, essv10996951, essv10996940, essv10996952, essv10996950, essv10996946, essv10996945, essv10996944, essv10996942, essv10996948, essv10996941, essv10996938, essv10996937, essv10996949
SamplesNA11829, HG01459, HG01767, HG01133, NA12828, HG01353, HG00268, HG01515, HG01197, HG01700, HG01113, NA20786, HG01479, HG01509, HG01097, NA12776
Known GenesLARS2, LARS2-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596051
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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