A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16315011



Internal ID3968967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:35374451..35381157hg38UCSC Ensembl
Innerchr21:35374951..35380657hg38UCSC Ensembl
Outerchr21:35373451..35382157hg38UCSC Ensembl
chr21:36746749..36753455hg19UCSC Ensembl
Innerchr21:36747249..36752955hg19UCSC Ensembl
Outerchr21:36745749..36754455hg19UCSC Ensembl
Cytoband21q22.12
Allele length
AssemblyAllele length
hg386707
hg196707
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3646942
Supporting Variants
SamplesHG03624
Known GenesLOC100506403
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16315011
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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