A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11936735



Internal ID1022649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:66810828..66835285hg38UCSC Ensembl
Innerchr5:66810978..66835135hg38UCSC Ensembl
Outerchr5:66810678..66835435hg38UCSC Ensembl
chr5:66106656..66131113hg19UCSC Ensembl
Innerchr5:66106806..66130963hg19UCSC Ensembl
Outerchr5:66106506..66131263hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3824458
hg1924458
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605320
Supporting Variants
SamplesHG00640
Known GenesMAST4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11936735
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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