A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11913612



Internal ID1915428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:57481633..57484422hg38UCSC Ensembl
Innerchr5:57481633..57484422hg38UCSC Ensembl
Outerchr5:57481520..57484629hg38UCSC Ensembl
chr5:56777460..56780249hg19UCSC Ensembl
Innerchr5:56777460..56780249hg19UCSC Ensembl
Outerchr5:56777347..56780456hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg382790
hg192790
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605137
Supporting Variants
SamplesNA20856
Known GenesACTBL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11913612
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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