A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676026



Internal ID15016479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7845906..7845936hg38UCSC Ensembl
Innerchr5:7845915..7845924hg38UCSC Ensembl
Outerchr5:7845885..7845957hg38UCSC Ensembl
chr5:7846019..7846049hg19UCSC Ensembl
Innerchr5:7846028..7846037hg19UCSC Ensembl
Outerchr5:7845998..7846070hg19UCSC Ensembl
chr5:7899019..7899049hg18UCSC Ensembl
Innerchr5:7899037..7899028hg18UCSC Ensembl
Outerchr5:7898998..7899070hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38221
hg19221
hg18221
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3368102
Supporting Variants
SamplesNA19238
Known GenesC5orf49
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676026
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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