A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10726933



Internal ID5918507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158279664..158293168hg38UCSC Ensembl
chr2:159136176..159149680hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3813505
hg1913505
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593072
Supporting Variants
SamplesNA19328
Known GenesCCDC148
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10726933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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