A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871308



Internal ID1818475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37875198..37877944hg38UCSC Ensembl
Innerchr5:37875198..37877944hg38UCSC Ensembl
Outerchr5:37875000..37878157hg38UCSC Ensembl
chr5:37875300..37878046hg19UCSC Ensembl
Innerchr5:37875300..37878046hg19UCSC Ensembl
Outerchr5:37875102..37878259hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382747
hg192747
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604755
Supporting Variants
SamplesHG01694
Known GenesGDNF-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871308
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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