A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10152263



Internal ID6318183
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587625
Supporting Variants
SamplesNA19917
Known GenesASH1L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10152263
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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