A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10544512



Internal ID546328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:75581910..75663772hg38UCSC Ensembl
chr2:75809036..75890898hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3881863
hg1981863
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591302
Supporting Variants
SamplesNA18956
Known GenesGCFC2, MRPL19
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10544512
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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