A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11809549



Internal ID3410141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10573220..10574826hg38UCSC Ensembl
Innerchr5:10573221..10574826hg38UCSC Ensembl
Outerchr5:10573220..10574827hg38UCSC Ensembl
chr5:10573332..10574938hg19UCSC Ensembl
Innerchr5:10573333..10574938hg19UCSC Ensembl
Outerchr5:10573332..10574939hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg381607
hg191607
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604003
Supporting Variants
SamplesHG03054
Known GenesANKRD33B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11809549
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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