A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7821289



Internal ID13722978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157594410..157594411hg38UCSC Ensembl
Innerchr2:157594394..157594427hg38UCSC Ensembl
Outerchr2:157594393..157594428hg38UCSC Ensembl
chr2:158450922..158450923hg19UCSC Ensembl
Innerchr2:158450906..158450939hg19UCSC Ensembl
Outerchr2:158450905..158450940hg19UCSC Ensembl
chr2:158159168..158159169hg18UCSC Ensembl
Innerchr2:158159185..158159152hg18UCSC Ensembl
Outerchr2:158159151..158159186hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38290
hg19290
hg18290
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303213
Supporting Variants
SamplesNA18558
Known GenesACVR1C
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7821289
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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