A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587644



Internal ID6975066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:157034225..157043679hg38UCSC Ensembl
Innerchr1:157034235..157043670hg38UCSC Ensembl
Outerchr1:157034216..157043689hg38UCSC Ensembl
chr1:157004017..157013471hg19UCSC Ensembl
Innerchr1:157004027..157013462hg19UCSC Ensembl
Outerchr1:157004008..157013481hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg389455
hg199455
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10153615, essv10153616
SamplesHG01795, HG02409
Known GenesARHGEF11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587644
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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