A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621752



Internal ID7008618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:125596353..125603923hg38UCSC Ensembl
Innerchr9:125596353..125603923hg38UCSC Ensembl
Outerchr9:125596073..125604219hg38UCSC Ensembl
chr9:128358632..128366202hg19UCSC Ensembl
Innerchr9:128358632..128366202hg19UCSC Ensembl
Outerchr9:128358352..128366498hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg387571
hg197571
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13619164, essv13619165, essv13619166
SamplesHG00103, HG00137, HG01669
Known GenesMAPKAP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621752
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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