A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597562



Internal ID6984701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:119505897..119509080hg38UCSC Ensembl
Innerchr3:119505899..119509079hg38UCSC Ensembl
Outerchr3:119505896..119509082hg38UCSC Ensembl
chr3:119224744..119227927hg19UCSC Ensembl
Innerchr3:119224746..119227926hg19UCSC Ensembl
Outerchr3:119224743..119227929hg19UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg383184
hg193184
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv928e214
Supporting Variantsessv11116301, essv11116303, essv11116302, essv11116300
SamplesHG04144, HG03491, HG02660, HG03611
Known GenesTIMMDC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597562
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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