A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3620303



Internal ID7007174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:32569144..33069475hg38UCSC Ensembl
Innerchr9:32569294..33069325hg38UCSC Ensembl
Outerchr9:32568994..33069625hg38UCSC Ensembl
chr9:32569142..33069473hg19UCSC Ensembl
Innerchr9:32569292..33069323hg19UCSC Ensembl
Outerchr9:32568992..33069623hg19UCSC Ensembl
Cytoband9p21.1
Allele length
AssemblyAllele length
hg38500332
hg19500332
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13451377, essv13451376, essv13451375, essv13451379, essv13451378
SamplesHG00403, HG01602, HG00610, NA19917, HG00266
Known GenesAPTX, DNAJA1, NDUFB6, SMU1, TAF1L, TMEM215
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3620303
Frequency
Sample Size2504
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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