A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605819



Internal ID6992756
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11981499
SamplesNA20510
Known GenesKIAA0825
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605819
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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