A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632017



Internal ID7018827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48090433..48090924hg38UCSC Ensembl
Innerchr13:48090433..48090924hg38UCSC Ensembl
Outerchr13:48090346..48091161hg38UCSC Ensembl
chr13:48664569..48665060hg19UCSC Ensembl
Innerchr13:48664569..48665060hg19UCSC Ensembl
Outerchr13:48664482..48665297hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14716011, essv14716010
SamplesNA20768, NA20807
Known GenesMED4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632017
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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