A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14713254



Internal ID1998655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46279256..46355716hg38UCSC Ensembl
Innerchr13:46279256..46355716hg38UCSC Ensembl
Outerchr13:46278756..46356216hg38UCSC Ensembl
chr13:46853391..46929851hg19UCSC Ensembl
Innerchr13:46853391..46929851hg19UCSC Ensembl
Outerchr13:46852891..46930351hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3876461
hg1976461
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631983
Supporting Variants
SamplesHG01850
Known GenesKIAA0226L, LINC00563
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14713254
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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