A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303213



Internal ID14803475
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 StatusM
Merged Variants
Supporting Variantsessv7834177, essv7783474, essv7793263, essv7797030, essv7824017, essv7819788, essv7804178, essv7803693, essv7813873, essv7796442, essv7782009, essv7790673, essv7832582, essv7829176, essv7812885, essv7775705, essv7833654, essv7812084, essv7792828, essv7782810, essv7821289, essv7830565
SamplesNA18870, NA18964, NA12154, NA12750, NA18501, NA18603, NA18953, NA18573, NA18489, NA18965, NA18949, NA18563, NA12814, NA18609, NA19102, NA18558, NA18564, NA18961, NA18582, NA19225, NA18555, NA07000
Known GenesACVR1C
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303213
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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