A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8679011



Internal ID15107761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:56216019..56216038hg38UCSC Ensembl
Innerchr5:56216015..56216042hg38UCSC Ensembl
Outerchr5:56215996..56216061hg38UCSC Ensembl
chr5:55511846..55511865hg19UCSC Ensembl
Innerchr5:55511842..55511869hg19UCSC Ensembl
Outerchr5:55511823..55511888hg19UCSC Ensembl
chr5:55547603..55547622hg18UCSC Ensembl
Innerchr5:55547626..55547599hg18UCSC Ensembl
Outerchr5:55547580..55547645hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337539
Supporting Variants
SamplesNA19240
Known GenesANKRD55
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8679011
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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