A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9620969



Internal ID13171895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:7845918..7845937hg38UCSC Ensembl
Innerchr5:7845914..7845941hg38UCSC Ensembl
Outerchr5:7845895..7845960hg38UCSC Ensembl
chr5:7846031..7846050hg19UCSC Ensembl
Innerchr5:7846027..7846054hg19UCSC Ensembl
Outerchr5:7846008..7846073hg19UCSC Ensembl
chr5:7899031..7899050hg18UCSC Ensembl
Innerchr5:7899054..7899027hg18UCSC Ensembl
Outerchr5:7899008..7899073hg18UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3420607
Supporting Variants
SamplesNA11881
Known GenesC5orf49
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9620969
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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