A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591732



Internal ID6632016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:99123694..99182166hg38UCSC Ensembl
chr2:99740157..99798629hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg3858473
hg1958473
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10593959, essv10593961, essv10593960, essv10593956, essv10593957, essv10593962, essv10593958, essv10593955, essv10593963
SamplesHG03856, HG03969, HG02775, HG04210, HG04042, HG02688, HG03640, HG03695, HG03991
Known GenesC2orf15, LIPT1, MITD1, MRPL30, TSGA10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591732
Frequency
Sample Size2504
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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