A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16404193



Internal ID1671488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:31658975..31660918hg38UCSC Ensembl
Innerchr22:31658994..31660899hg38UCSC Ensembl
Outerchr22:31658956..31660937hg38UCSC Ensembl
chr22:32054961..32056904hg19UCSC Ensembl
Innerchr22:32054980..32056885hg19UCSC Ensembl
Outerchr22:32054942..32056923hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg381944
hg191944
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3647593
Supporting Variants
SamplesHG01531
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16404193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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