A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12022772



Internal ID3639791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:112675120..112681608hg38UCSC Ensembl
Innerchr5:112675164..112681565hg38UCSC Ensembl
Outerchr5:112675077..112681652hg38UCSC Ensembl
chr5:112010817..112017305hg19UCSC Ensembl
Innerchr5:112010861..112017262hg19UCSC Ensembl
Outerchr5:112010774..112017349hg19UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg386489
hg196489
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606299
Supporting Variants
SamplesHG03237
Known GenesLOC102467216
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12022772
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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