A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12067104



Internal ID2068920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:134875198..134888214hg38UCSC Ensembl
Innerchr5:134875211..134888201hg38UCSC Ensembl
Outerchr5:134875185..134888227hg38UCSC Ensembl
chr5:134210888..134223904hg19UCSC Ensembl
Innerchr5:134210901..134223891hg19UCSC Ensembl
Outerchr5:134210875..134223917hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg3813017
hg1913017
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606852
Supporting Variants
SamplesHG00331
Known GenesTXNDC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12067104
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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