A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955756



Internal ID1957572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80560590..80585168hg38UCSC Ensembl
chr5:79856409..79880987hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3824579
hg1924579
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605576
Supporting Variants
SamplesHG03372
Known GenesANKRD34B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955756
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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