A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13660501



Internal ID3662317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137686055..137702179hg38UCSC Ensembl
Innerchr9:137686555..137701679hg38UCSC Ensembl
Outerchr9:137685055..137703179hg38UCSC Ensembl
chr9:140580507..140596631hg19UCSC Ensembl
Innerchr9:140581007..140596131hg19UCSC Ensembl
Outerchr9:140579507..140597631hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg3816125
hg1916125
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3622041
Supporting Variants
SamplesNA19917
Known GenesEHMT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13660501
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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