A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11774086



Internal ID5731917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1000934..1049174hg38UCSC Ensembl
Innerchr5:1000934..1049174hg38UCSC Ensembl
Outerchr5:1000681..1049298hg38UCSC Ensembl
chr5:1001049..1049289hg19UCSC Ensembl
Innerchr5:1001049..1049289hg19UCSC Ensembl
Outerchr5:1000796..1049413hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3848241
hg1948241
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603793
Supporting Variants
SamplesNA19108
Known GenesNKD2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11774086
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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