A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3338137



Internal ID14838407
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157594418..157594426hg38UCSC Ensembl
Innerchr2:157594410..157594434hg38UCSC Ensembl
Outerchr2:157594400..157594442hg38UCSC Ensembl
chr2:158450930..158450938hg19UCSC Ensembl
Innerchr2:158450922..158450946hg19UCSC Ensembl
Outerchr2:158450912..158450954hg19UCSC Ensembl
chr2:158159176..158159184hg18UCSC Ensembl
Innerchr2:158159192..158159168hg18UCSC Ensembl
Outerchr2:158159158..158159200hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38281
hg19281
hg18281
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909044, essv8909035, essv8909047, essv8909050, essv8909030, essv8909028, essv8909036, essv8909031, essv8909033, essv8909029, essv8909038, essv8909041, essv8909039, essv8909045, essv8909049, essv8909043, essv8909040, essv8909034, essv8909042, essv8909046, essv8909032
SamplesNA18603, NA18870, NA12750, NA18563, NA18489, NA18558, NA18582, NA18964, NA18949, NA18573, NA18555, NA19225, NA18953, NA18961, NA18564, NA18501, NA18609, NA19102, NA07000, NA12154, NA18965
Known GenesACVR1C
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3338137
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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