A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597627



Internal ID6984766
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11125366, essv11125365, essv11125364, essv11125363, essv11125361, essv11125359, essv11125360, essv11125362
SamplesHG03558, NA19190, HG03478, NA19118, HG03108, NA20357, HG03313, NA19116
Known GenesMYLK-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597627
Frequency
Sample Size2504
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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