A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3394814



Internal ID14895092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:82372554..82372573hg38UCSC Ensembl
Innerchr7:82372550..82372577hg38UCSC Ensembl
Outerchr7:82372531..82372596hg38UCSC Ensembl
chr7:82001870..82001889hg19UCSC Ensembl
Innerchr7:82001866..82001893hg19UCSC Ensembl
Outerchr7:82001847..82001912hg19UCSC Ensembl
chr7:81839806..81839825hg18UCSC Ensembl
Innerchr7:81839829..81839802hg18UCSC Ensembl
Outerchr7:81839783..81839848hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9634636, essv9634647, essv9634625
SamplesNA11918, NA12287, NA12872
Known GenesCACNA2D1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3394814
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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