A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10587479



Internal ID4307569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:94697293..94767885hg38UCSC Ensembl
chr2:95363020..95433630hg19UCSC Ensembl
Cytoband2q11.1
Allele length
AssemblyAllele length
hg3870593
hg1970611
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591650
Supporting Variants
SamplesHG03863
Known GenesANKRD20A8P, FAM95A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10587479
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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