A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7831819



Internal ID14562281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:162822106..162822107hg38UCSC Ensembl
Innerchr2:162822089..162822124hg38UCSC Ensembl
Outerchr2:162822088..162822125hg38UCSC Ensembl
chr2:163678616..163678617hg19UCSC Ensembl
Innerchr2:163678599..163678634hg19UCSC Ensembl
Outerchr2:163678598..163678635hg19UCSC Ensembl
chr2:163386862..163386863hg18UCSC Ensembl
Innerchr2:163386880..163386845hg18UCSC Ensembl
Outerchr2:163386844..163386881hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305830
Supporting Variants
SamplesNA19138
Known GenesKCNH7
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7831819
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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