A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14848244



Internal ID3537429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:90913413..90940912hg38UCSC Ensembl
Innerchr13:90913413..90940912hg38UCSC Ensembl
Outerchr13:90912913..90941412hg38UCSC Ensembl
chr13:91565667..91593166hg19UCSC Ensembl
Innerchr13:91565667..91593166hg19UCSC Ensembl
Outerchr13:91565167..91593666hg19UCSC Ensembl
Cytoband13q31.3
Allele length
AssemblyAllele length
hg3827500
hg1927500
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633142
Supporting Variants
SamplesHG03126
Known GenesLINC00410
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14848244
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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