A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599514



Internal ID6986560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6975029..6980844hg38UCSC Ensembl
Innerchr4:6975064..6980809hg38UCSC Ensembl
Outerchr4:6974994..6980879hg38UCSC Ensembl
chr4:6976756..6982571hg19UCSC Ensembl
Innerchr4:6976791..6982536hg19UCSC Ensembl
Outerchr4:6976721..6982606hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg385816
hg195816
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11332207, essv11332206
SamplesHG02583, HG02878
Known GenesTBC1D14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599514
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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