A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701398



Internal ID13643415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:212939359..212939359hg38UCSC Ensembl
Innerchr2:212939358..212939360hg38UCSC Ensembl
Outerchr2:212939309..212939409hg38UCSC Ensembl
chr2:213804083..213804083hg19UCSC Ensembl
Innerchr2:213804082..213804084hg19UCSC Ensembl
Outerchr2:213804033..213804133hg19UCSC Ensembl
chr2:213512328..213512328hg18UCSC Ensembl
Innerchr2:213512329..213512327hg18UCSC Ensembl
Outerchr2:213512278..213512378hg18UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg38368
hg19368
hg18368
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336034
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701398
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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