A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595211



Internal ID6982529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:8222473..8225726hg38UCSC Ensembl
Innerchr3:8222473..8225726hg38UCSC Ensembl
Outerchr3:8221973..8226226hg38UCSC Ensembl
chr3:8264160..8267413hg19UCSC Ensembl
Innerchr3:8264160..8267413hg19UCSC Ensembl
Outerchr3:8263660..8267913hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg383254
hg193254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10916518, essv10916519
SamplesNA19055, NA19056
Known GenesLMCD1-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595211
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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