A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633242



Internal ID6673364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:95240946..95241793hg38UCSC Ensembl
Innerchr13:95240946..95241793hg38UCSC Ensembl
Outerchr13:95240714..95242011hg38UCSC Ensembl
chr13:95893200..95894047hg19UCSC Ensembl
Innerchr13:95893200..95894047hg19UCSC Ensembl
Outerchr13:95892968..95894265hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg38848
hg19848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14868854, essv14868855, essv14868852, essv14868853, essv14868856, essv14868851
SamplesHG02470, NA12843, NA12234, NA20852, HG00101, HG01383
Known GenesABCC4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633242
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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