A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10683571



Internal ID685387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:135755875..135805055hg38UCSC Ensembl
chr2:136513445..136562625hg19UCSC Ensembl
Cytoband2q21.3
Allele length
AssemblyAllele length
hg3849181
hg1949181
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592582
Supporting Variants
SamplesHG03762
Known GenesLCT, UBXN4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10683571
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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