A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633290



Internal ID7020099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97289411..97291934hg38UCSC Ensembl
Innerchr13:97289426..97291920hg38UCSC Ensembl
Outerchr13:97289397..97291949hg38UCSC Ensembl
chr13:97941665..97944188hg19UCSC Ensembl
Innerchr13:97941680..97944174hg19UCSC Ensembl
Outerchr13:97941651..97944203hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg382524
hg192524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14869391, essv14869392
SamplesHG01950, HG01781
Known GenesMBNL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633290
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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