A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11981499



Internal ID6443161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:94465523..94466964hg38UCSC Ensembl
Innerchr5:94465535..94466953hg38UCSC Ensembl
Outerchr5:94465512..94466976hg38UCSC Ensembl
chr5:93801228..93802669hg19UCSC Ensembl
Innerchr5:93801240..93802658hg19UCSC Ensembl
Outerchr5:93801217..93802681hg19UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg381442
hg191442
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605819
Supporting Variants
SamplesNA20510
Known GenesKIAA0825
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11981499
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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