A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633557



Internal ID7020366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:110983375..111121932hg38UCSC Ensembl
Innerchr13:110983525..111121782hg38UCSC Ensembl
Outerchr13:110983225..111122082hg38UCSC Ensembl
chr13:111635722..111774279hg19UCSC Ensembl
Innerchr13:111635872..111774129hg19UCSC Ensembl
Outerchr13:111635572..111774429hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38138558
hg19138558
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv373e214
Supporting Variantsessv14898508, essv14898503, essv14898504, essv14898505, essv14898507, essv14898506
SamplesHG00142, NA11829, NA20533, HG02265, HG00145, HG03060
Known GenesARHGEF7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633557
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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