A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611618



Internal ID6651836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165329797..165330305hg38UCSC Ensembl
Innerchr6:165329847..165330255hg38UCSC Ensembl
Outerchr6:165329723..165330379hg38UCSC Ensembl
chr6:165743286..165743794hg19UCSC Ensembl
Innerchr6:165743336..165743744hg19UCSC Ensembl
Outerchr6:165743212..165743868hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38509
hg19509
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12629993, essv12629995, essv12629994
SamplesNA21137, NA21126, NA18989
Known GenesPDE10A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611618
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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