A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955714



Internal ID1957530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80402118..80602933hg38UCSC Ensembl
chr5:79697937..79898752hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38200816
hg19200816
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605573
Supporting Variants
SamplesHG03372
Known GenesANKRD34B, FAM151B, ZFYVE16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955714
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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