A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621837



Internal ID6662013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:129611567..129612499hg38UCSC Ensembl
Innerchr9:129611568..129612499hg38UCSC Ensembl
Outerchr9:129611567..129612500hg38UCSC Ensembl
chr9:132373846..132374778hg19UCSC Ensembl
Innerchr9:132373847..132374778hg19UCSC Ensembl
Outerchr9:132373846..132374779hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38933
hg19933
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13628409, essv13628405, essv13628403, essv13628413, essv13628402, essv13628400, essv13628408, essv13628411, essv13628404, essv13628406, essv13628401, essv13628407, essv13628410, essv13628412
SamplesHG02890, HG02610, NA19092, NA18870, HG03045, NA19207, NA20318, HG02009, HG03088, HG02108, HG03081, HG03078, HG02309, HG03118
Known GenesC9orf50, NTMT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621837
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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