A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11971082



Internal ID1972898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:88960996..88971943hg38UCSC Ensembl
Innerchr5:88960996..88971943hg38UCSC Ensembl
Outerchr5:88960496..88972443hg38UCSC Ensembl
chr5:88256813..88267760hg19UCSC Ensembl
Innerchr5:88256813..88267760hg19UCSC Ensembl
Outerchr5:88256313..88268260hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg3810948
hg1910948
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605741
Supporting Variants
SamplesNA19331
Known GenesMEF2C-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11971082
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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