A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633349



Internal ID7020158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:100743936..100745204hg38UCSC Ensembl
Innerchr13:100743945..100745195hg38UCSC Ensembl
Outerchr13:100743927..100745213hg38UCSC Ensembl
chr13:101396190..101397458hg19UCSC Ensembl
Innerchr13:101396199..101397449hg19UCSC Ensembl
Outerchr13:101396181..101397467hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg381269
hg191269
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14875967, essv14875966, essv14875968
SamplesHG02505, HG02379, HG02396
Known GenesNALCN-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633349
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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