A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11868580



Internal ID1870396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:35513484..36501574hg38UCSC Ensembl
Innerchr5:35513634..36501424hg38UCSC Ensembl
Outerchr5:35513334..36501724hg38UCSC Ensembl
chr5:35513586..36501676hg19UCSC Ensembl
Innerchr5:35513736..36501526hg19UCSC Ensembl
Outerchr5:35513436..36501826hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38988091
hg19988091
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604707
Supporting Variants
SamplesNA12717
Known GenesCAPSL, IL7R, LMBRD2, LOC100506406, MIR580, NADK2, RANBP3L, SKP2, SPEF2, UGT3A1, UGT3A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11868580
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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