A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3585476



Internal ID6625794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23107552..23110949hg38UCSC Ensembl
Innerchr1:23107552..23110949hg38UCSC Ensembl
Outerchr1:23107263..23111201hg38UCSC Ensembl
chr1:23434045..23437442hg19UCSC Ensembl
Innerchr1:23434045..23437442hg19UCSC Ensembl
Outerchr1:23433756..23437694hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg383398
hg193398
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9889337, essv9889338, essv9889336, essv9889329, essv9889335, essv9889331, essv9889333, essv9889339, essv9889327, essv9889328, essv9889332, essv9889330, essv9889334
SamplesHG04211, HG02691, HG04022, NA21107, HG03858, NA20881, HG04118, NA21117, HG04026, HG02694, HG03849, NA21101, HG03864
Known GenesLUZP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3585476
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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