A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9605135



Internal ID13257874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:157594413..157594432hg38UCSC Ensembl
Innerchr2:157594409..157594436hg38UCSC Ensembl
Outerchr2:157594390..157594455hg38UCSC Ensembl
chr2:158450925..158450944hg19UCSC Ensembl
Innerchr2:158450921..158450948hg19UCSC Ensembl
Outerchr2:158450902..158450967hg19UCSC Ensembl
chr2:158159171..158159190hg18UCSC Ensembl
Innerchr2:158159194..158159167hg18UCSC Ensembl
Outerchr2:158159148..158159213hg18UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3381776
Supporting Variants
SamplesNA12814
Known GenesACVR1C
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9605135
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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