A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7843462



Internal ID13622520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76556976..76556976hg38UCSC Ensembl
chr2:76784102..76784102hg19UCSC Ensembl
chr2:76637610..76637610hg18UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38172
hg19172
hg18172
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310424
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex reference assisted and de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7843462
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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