A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9607725



Internal ID13606243
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241422862..241422881hg38UCSC Ensembl
Innerchr2:241422858..241422885hg38UCSC Ensembl
Outerchr2:241422839..241422904hg38UCSC Ensembl
chr2:242362277..242362296hg19UCSC Ensembl
Innerchr2:242362273..242362300hg19UCSC Ensembl
Outerchr2:242362254..242362319hg19UCSC Ensembl
chr2:242010950..242010969hg18UCSC Ensembl
Innerchr2:242010973..242010946hg18UCSC Ensembl
Outerchr2:242010927..242010992hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326782
Supporting Variants
SamplesNA12815
Known GenesFARP2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9607725
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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