A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9622747



Internal ID13164826
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73037319..73037338hg38UCSC Ensembl
Innerchr5:73037315..73037342hg38UCSC Ensembl
Outerchr5:73037296..73037361hg38UCSC Ensembl
chr5:72333146..72333165hg19UCSC Ensembl
Innerchr5:72333142..72333169hg19UCSC Ensembl
Outerchr5:72333123..72333188hg19UCSC Ensembl
chr5:72368902..72368921hg18UCSC Ensembl
Innerchr5:72368925..72368898hg18UCSC Ensembl
Outerchr5:72368879..72368944hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3358480
Supporting Variants
SamplesNA11840
Known GenesFCHO2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9622747
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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