A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618661



Internal ID6658855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123047339..123050171hg38UCSC Ensembl
Innerchr8:123047489..123050021hg38UCSC Ensembl
Outerchr8:123047189..123050321hg38UCSC Ensembl
chr8:124059579..124062411hg19UCSC Ensembl
Innerchr8:124059729..124062261hg19UCSC Ensembl
Outerchr8:124059429..124062561hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg382833
hg192833
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13309004, essv13309013, essv13309014, essv13309009, essv13309011, essv13309008, essv13309010, essv13309003, essv13309016, essv13309005, essv13309012, essv13309006, essv13309017, essv13309007, essv13309015
SamplesHG02476, HG03246, HG03224, HG03209, NA19901, HG01248, HG03428, HG02817, HG03557, HG01086, HG03432, HG03097, HG03077, HG02947, HG03439
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618661
Frequency
Sample Size2504
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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