A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10547440



Internal ID4038541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:76423656..76506755hg38UCSC Ensembl
chr2:76650782..76733881hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3883100
hg1983100
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591322
Supporting Variants
SamplesHG03687
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10547440
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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