A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3587625



Internal ID6975047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:155539671..155551015hg38UCSC Ensembl
Innerchr1:155539671..155551015hg38UCSC Ensembl
Outerchr1:155539171..155551515hg38UCSC Ensembl
chr1:155509462..155520806hg19UCSC Ensembl
Innerchr1:155509462..155520806hg19UCSC Ensembl
Outerchr1:155508962..155521306hg19UCSC Ensembl
Cytoband1q22
Allele length
AssemblyAllele length
hg3811345
hg1911345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10152263, essv10152262
SamplesHG02733, NA19917
Known GenesASH1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3587625
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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