A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14716645



Internal ID3159599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48543440..48545178hg38UCSC Ensembl
Innerchr13:48543465..48545153hg38UCSC Ensembl
Outerchr13:48543415..48545203hg38UCSC Ensembl
chr13:49117576..49119314hg19UCSC Ensembl
Innerchr13:49117601..49119289hg19UCSC Ensembl
Outerchr13:49117551..49119339hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381739
hg191739
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632029
Supporting Variants
SamplesHG02783
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14716645
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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