A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9614312



Internal ID13222337
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:21963005..21963024hg38UCSC Ensembl
Innerchr4:21963001..21963028hg38UCSC Ensembl
Outerchr4:21962982..21963047hg38UCSC Ensembl
chr4:21964628..21964647hg19UCSC Ensembl
Innerchr4:21964624..21964651hg19UCSC Ensembl
Outerchr4:21964605..21964670hg19UCSC Ensembl
chr4:21573726..21573745hg18UCSC Ensembl
Innerchr4:21573749..21573722hg18UCSC Ensembl
Outerchr4:21573703..21573768hg18UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3390894
Supporting Variants
SamplesNA11931
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9614312
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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