A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3310424



Internal ID15157375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:76556976..76556976hg38UCSC Ensembl
Outerchr2:76556976..76556976hg38UCSC Ensembl
Innerchr2:76784102..76784102hg19UCSC Ensembl
Outerchr2:76784102..76784102hg19UCSC Ensembl
Innerchr2:76637610..76637610hg18UCSC Ensembl
Outerchr2:76637610..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 StatusM
Merged Variants
Supporting Variantsessv7843462
SamplesNA12878
Known Genes
MethodSequencing
AnalysisCortex reference assisted and de-novo
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3310424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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