A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7755837



Internal ID14838462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10422719..10422720hg38UCSC Ensembl
Innerchr5:10422687..10422752hg38UCSC Ensembl
Outerchr5:10422686..10422753hg38UCSC Ensembl
chr5:10422831..10422832hg19UCSC Ensembl
Innerchr5:10422799..10422864hg19UCSC Ensembl
Outerchr5:10422798..10422865hg19UCSC Ensembl
chr5:10475831..10475832hg18UCSC Ensembl
Innerchr5:10475864..10475799hg18UCSC Ensembl
Outerchr5:10475798..10475865hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38304
hg19304
hg18304
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307696
Supporting Variants
SamplesNA19102
Known GenesMARCH6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7755837
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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