A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841022



Internal ID6466315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1663929..1681002hg38UCSC Ensembl
chr1:1595368..1612441hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3817074
hg1917074
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585009
Supporting Variants
SamplesNA19723
Known GenesCDK11B, SLC35E2B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841022
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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