A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11879610



Internal ID1126085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41226674..41243835hg38UCSC Ensembl
Innerchr5:41226685..41243825hg38UCSC Ensembl
Outerchr5:41226664..41243846hg38UCSC Ensembl
chr5:41226776..41243937hg19UCSC Ensembl
Innerchr5:41226787..41243927hg19UCSC Ensembl
Outerchr5:41226766..41243948hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3817162
hg1917162
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604838
Supporting Variants
SamplesHG00844
Known GenesC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11879610
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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