A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589598



Internal ID6629887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:250064..298533hg38UCSC Ensembl
chr2:250064..298533hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg3848470
hg1948470
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10383109
SamplesNA18987
Known GenesACP1, FAM150B, SH3YL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589598
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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