A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11125364



Internal ID5746006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123596568..123598098hg38UCSC Ensembl
Innerchr3:123596570..123598096hg38UCSC Ensembl
Outerchr3:123596566..123598100hg38UCSC Ensembl
chr3:123315415..123316945hg19UCSC Ensembl
Innerchr3:123315417..123316943hg19UCSC Ensembl
Outerchr3:123315413..123316947hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381531
hg191531
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597627
Supporting Variants
SamplesNA19118
Known GenesMYLK-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11125364
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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