A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8699892



Internal ID13282731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232884968..232886172hg38UCSC Ensembl
Innerchr2:232885028..232886103hg38UCSC Ensembl
Outerchr2:232884878..232886213hg38UCSC Ensembl
chr2:233749678..233750882hg19UCSC Ensembl
Innerchr2:233749738..233750813hg19UCSC Ensembl
Outerchr2:233749588..233750923hg19UCSC Ensembl
chr2:233457922..233459126hg18UCSC Ensembl
Innerchr2:233457982..233459057hg18UCSC Ensembl
Outerchr2:233457832..233459167hg18UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg381205
hg191205
hg181205
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3389683
Supporting Variants
SamplesNA12878
Known GenesNGEF
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8699892
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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