A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14848255



Internal ID3537463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90971575..91072409hg38UCSC Ensembl
Innerchr13:90971581..91072403hg38UCSC Ensembl
Outerchr13:90971569..91072415hg38UCSC Ensembl
chr13:91623829..91724663hg19UCSC Ensembl
Innerchr13:91623835..91724657hg19UCSC Ensembl
Outerchr13:91623823..91724669hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg38100835
hg19100835
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633145
Supporting Variants
SamplesHG03126
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14848255
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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