A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10141763



Internal ID5798283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:149793565..149796179hg38UCSC Ensembl
Innerchr1:149793571..149796174hg38UCSC Ensembl
Outerchr1:149793560..149796185hg38UCSC Ensembl
chr1:149765121..149767735hg19UCSC Ensembl
Innerchr1:149765127..149767730hg19UCSC Ensembl
Outerchr1:149765116..149767741hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg382615
hg192615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3587495
Supporting Variants
SamplesNA19171
Known GenesHIST2H2BF
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10141763
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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