A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3586069



Internal ID6973588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:53516147..53517334hg38UCSC Ensembl
Innerchr1:53516197..53517284hg38UCSC Ensembl
Outerchr1:53515934..53517547hg38UCSC Ensembl
chr1:53981820..53983007hg19UCSC Ensembl
Innerchr1:53981870..53982957hg19UCSC Ensembl
Outerchr1:53981607..53983220hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381188
hg191188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9932169, essv9932172, essv9932178, essv9932175, essv9932177, essv9932179, essv9932180, essv9932176, essv9932174, essv9932170, essv9932171, essv9932173
SamplesNA21115, HG03782, HG04070, NA20896, NA20889, NA21086, NA21087, NA20872, NA21144, HG03729, NA20868, HG03989
Known GenesGLIS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3586069
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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