A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11862707



Internal ID1864523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33788234..33790902hg38UCSC Ensembl
Innerchr5:33788254..33790883hg38UCSC Ensembl
Outerchr5:33788215..33790922hg38UCSC Ensembl
chr5:33788339..33791007hg19UCSC Ensembl
Innerchr5:33788359..33790988hg19UCSC Ensembl
Outerchr5:33788320..33791027hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg382669
hg192669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604662
Supporting Variants
SamplesHG02947
Known GenesADAMTS12
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11862707
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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