A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621939



Internal ID6662115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:133330867..133344894hg38UCSC Ensembl
Innerchr9:133331367..133344394hg38UCSC Ensembl
Outerchr9:133329867..133345894hg38UCSC Ensembl
chr9:136197703..136211749hg19UCSC Ensembl
Innerchr9:136198203..136211249hg19UCSC Ensembl
Outerchr9:136196703..136212749hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg3814028
hg1914047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13639368, essv13639367
SamplesHG00182, HG01049
Known GenesMED22, SURF6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621939
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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