A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10731165



Internal ID5946122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:159287748..159326355hg38UCSC Ensembl
chr2:160144259..160182866hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3838608
hg1938608
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593112
Supporting Variants
SamplesNA19355
Known GenesBAZ2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10731165
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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