A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10011400



Internal ID13216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89419740..89647558hg38UCSC Ensembl
chr1:89885299..90113117hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38227819
hg19227819
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586765
Supporting Variants
SamplesHG03112
Known GenesFLJ27354, GBP1P1, LRRC8B, LRRC8C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10011400
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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