A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3632044



Internal ID6672169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49314431..49317148hg38UCSC Ensembl
Innerchr13:49314432..49317147hg38UCSC Ensembl
Outerchr13:49314430..49317149hg38UCSC Ensembl
chr13:49888567..49891284hg19UCSC Ensembl
Innerchr13:49888568..49891283hg19UCSC Ensembl
Outerchr13:49888566..49891285hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382718
hg192718
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14721013, essv14721011, essv14721012, essv14721014
SamplesNA20894, HG03951, HG03862, HG02490
Known GenesCAB39L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3632044
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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