A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283961



Internal ID2675546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194583829..194609794hg38UCSC Ensembl
Innerchr3:194583829..194609794hg38UCSC Ensembl
Outerchr3:194583329..194610294hg38UCSC Ensembl
chr3:194304558..194330523hg19UCSC Ensembl
Innerchr3:194304558..194330523hg19UCSC Ensembl
Outerchr3:194304058..194331023hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3825966
hg1925966
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599207
Supporting Variants
SamplesHG02371
Known GenesTMEM44, TMEM44-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283961
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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