A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10708786



Internal ID1812581
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:149140726..149157730hg38UCSC Ensembl
chr2:149997240..150014244hg19UCSC Ensembl
Cytoband2q23.2
Allele length
AssemblyAllele length
hg3817005
hg1917005
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3592858
Supporting Variants
SamplesHG01685
Known GenesLYPD6B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10708786
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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