A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11871307



Internal ID2504198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37860951..37862722hg38UCSC Ensembl
Innerchr5:37861000..37862674hg38UCSC Ensembl
Outerchr5:37860903..37862771hg38UCSC Ensembl
chr5:37861053..37862824hg19UCSC Ensembl
Innerchr5:37861102..37862776hg19UCSC Ensembl
Outerchr5:37861005..37862873hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg381772
hg191772
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604754
Supporting Variants
SamplesHG02223
Known GenesGDNF-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11871307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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