A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597092



Internal ID6984406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:97272550..97277662hg38UCSC Ensembl
Innerchr3:97273050..97277162hg38UCSC Ensembl
Outerchr3:97271550..97278662hg38UCSC Ensembl
chr3:96991394..96996506hg19UCSC Ensembl
Innerchr3:96991894..96996006hg19UCSC Ensembl
Outerchr3:96990394..96997506hg19UCSC Ensembl
Cytoband3q11.2
Allele length
AssemblyAllele length
hg385113
hg195113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11074678, essv11074679
SamplesHG03663, NA19308
Known GenesEPHA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597092
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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