A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12156244



Internal ID5708529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:181003202..181054245hg38UCSC Ensembl
chr5:180430202..180481245hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3851044
hg1951044
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607801
Supporting Variants
SamplesNA19092
Known GenesBTNL3, BTNL9, MIR8089
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12156244
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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